Variant #0000174988 (NC_000007.13:g.65551738G>A, ASL(NM_000048.3):c.532G>A)

Individual ID 00108516
Chromosome 7
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.65551738G>A
DNA change (hg38) g.66086751G>A
Published as -
ISCN -
DB-ID ASL_000021 See all 12 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs28941473
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00031 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ASL NM_000048.3 ?/. 8 c.532G>A r.(?) p.(Val178Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108983 DNA SEQ - - ASL 1 Johan den Dunnen