Variant #0000443193 (NC_000012.11:g.56088671G>A, NM_002206.2:c.2087C>T (ITGA7))

Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.56088671G>A
DNA change (hg38) g.55694887G>A
Published as -
ISCN -
DB-ID ITGA7_000015 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs76938320
Origin Germline
Segregation -
Frequency 0.01
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00019 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-11-14 15:42:16 +01:00 (CET)
Date last edited 2012-11-02 20:42:42 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ITGA7 NM_002206.2 ?/. 15 c.2087C>T r.(?) p.(Ser696Leu)


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