Genomic variant #0000034005

Individual ID 00017894
Chromosome 14
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.65544657C>T
Reference -
DB-ID MAX_000014
dbSNP ID rs876659562
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAX NM_001271069.1 ?/? - c.144+15769G>A r.(=) p.(=)
MAX NM_002382.4 ?/? - c.269G>A r.(?) p.(Arg90Gln)
MAX NM_145112.2 ?/? - c.242G>A r.(?) p.(Arg81Gln)
MAX NM_145113.2 ?/? - c.269G>A r.(?) p.(Arg90Gln)
MAX NM_197957.3 ?/? - c.171+15769G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002010 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou