Transcript #00000010

Transcript name Bloom syndrome, RecQ helicase-like
Gene name BLM (BLM RecQ like helicase)
Chromosome 15
Transcript - NCBI ID NM_000057.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000048.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

271 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.11T>C r.(?) p.(Val4Ala)
./. - c.11T>C r.(?) p.(Val4Ala)
./. - c.11T>C r.(?) p.(Val4Ala)
./. - c.11T>C r.(?) p.(Val4Ala)
./. - c.11T>C r.(?) p.(Val4Ala)
./. - c.11T>C r.(?) p.(Val4Ala)
./. - c.11T>C r.(?) p.(Val4Ala)
./. - c.11T>C r.(?) p.(Val4Ala)
./. - c.191A>T r.(?) p.(Asp64Val)
./. - c.191A>T r.(?) p.(Asp64Val)
./. - c.191A>T r.(?) p.(Asp64Val)
./. - c.274A>G r.(?) p.(Asn92Asp)
./. - c.274A>G r.(?) p.(Asn92Asp)
./. - c.274A>G r.(?) p.(Asn92Asp)
./. - c.274A>G r.(?) p.(Asn92Asp)
./. - c.345G>A r.(=) p.(=)
./. - c.368A>G r.(?) p.(Gln123Arg)
./. - c.403G>T r.(?) p.(Ala135Ser)
./. - c.545C>T r.(?) p.(Thr182Ile)
./. - c.545C>T r.(?) p.(Thr182Ile)
./. - c.615G>A r.(=) p.(=)
./. - c.615G>T r.(?) p.(Lys205Asn)
./. - c.696C>A r.(?) p.(Ser232Arg)
./. - c.799+38G>A r.(=) p.(=)
./. - c.799+38G>A r.(=) p.(=)
./. - c.800-28T>A r.(=) p.(=)
./. - c.808G>A r.(?) p.(Glu270Lys)
./. - c.822T>C r.(=) p.(=)
./. - c.857T>C r.(?) p.(Val286Ala)
./. - c.857T>C r.(?) p.(Val286Ala)
./. - c.888T>C r.(=) p.(=)
./. - c.899T>C r.(?) p.(Phe300Ser)
./. - c.963G>A r.(=) p.(=)
./. - c.1086C>T r.(=) p.(=)
./. - c.1088-40_1088-39insC r.(=) p.(=)
./. - c.1088-40_1088-39insC r.(=) p.(=)
./. - c.1212G>T r.(=) p.(=)
./. - c.1220+25A>T r.(=) p.(=)
./. - c.1221-23_1221-21del r.(=) p.(=)
./. - c.1221-16T>C r.(=) p.(=)
./. - c.1229T>C r.(?) p.(Leu410Pro)
./. - c.1315A>G r.(?) p.(Met439Val)
./. - c.1338A>G r.(=) p.(=)
./. - c.1338A>G r.(=) p.(=)
./. - c.1433G>C r.(?) p.(Gly478Ala)
./. - c.1552T>C r.(?) p.(Ser518Pro)
./. - c.1642C>T r.(?) p.(Gln548*)
./. - c.1642C>T r.(?) p.(Gln548*)
./. - c.1642C>T r.(?) p.(Gln548*)
./. - c.1642C>T r.(?) p.(Gln548*)
./. - c.1642C>T r.(?) p.(Gln548*)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1722A>G r.(=) p.(=)
./. - c.1825C>A r.(?) p.(Pro609Thr)
./. - c.1882+49A>G r.(=) p.(=)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1928G>A r.(?) p.(Arg643His)
./. - c.1934A>G r.(?) p.(Gln645Arg)
./. - c.2025G>A r.(=) p.(=)
./. - c.2025G>A r.(=) p.(=)
./. - c.2025G>C r.(=) p.(=)
./. - c.2075-14T>C r.(=) p.(=)
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