Genomic variant #0000023869

Individual ID 00017404
Chromosome 14
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.65560390T>C
Reference -
DB-ID MAX_000010 See all 3 reported entries
dbSNP ID rs115053488
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 0.00052
Allele Count 3
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAX NM_001271068.1 -?/-? - c.144+36A>G r.(=) p.(=)
MAX NM_001271069.1 -?/-? - c.144+36A>G r.(=) p.(=)
MAX NM_002382.4 -?/-? - c.171+36A>G r.(=) p.(=)
MAX NM_145112.2 -?/-? - c.144+36A>G r.(=) p.(=)
MAX NM_145113.2 -?/-? - c.171+36A>G r.(=) p.(=)
MAX NM_145114.2 -?/-? - c.171+36A>G r.(=) p.(=)
MAX NM_197957.3 -?/-? - c.171+36A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001069 DNA SEQ-NG-I 1 - 21 Despoina Kalfakakou