Variant #0000548825 (NC_000012.11:g.58197116C>T, TSFM(NM_001172696.1):c.*6750C>T)

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.58197116C>T
DNA change (hg38) g.57803333C>T
Published as AVIL(NM_006576.3):c.1876G>A (p.G626S)
ISCN -
DB-ID AVIL_000004
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) 0.0001 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSFM NM_001172696.1 ?/. - c.*6750C>T r.(=) p.(=)
AVIL NM_006576.3 ?/. - c.1876G>A r.(?) p.(Gly626Ser)