Variant #0000529518 (NC_000006.11:g.7556022G>A, DSP(NM_004415.2):c.242G>A)

Chromosome 6
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.7556022G>A
DNA change (hg38) g.7555789G>A
Published as DSP(NM_004415.2):c.242G>A (p.C81Y), DSP(NM_004415.4):c.242G>A (p.C81Y)
ISCN -
DB-ID DSP_000094 See all 7 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00014 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
DSP NM_004415.2 ?/. - c.242G>A r.(?) p.(Cys81Tyr) -