Variant #0000614332 (NC_000012.11:g.58190298G>T, TSFM(NM_001172696.1):c.973G>T)

Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.58190298G>T
DNA change (hg38) g.57796515G>T
Published as TSFM(NM_001172696.1):c.973G>T (p.G325W)
ISCN -
DB-ID AVIL_000006
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) Variant not found in online data sets
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.973G>T r.(?) p.(Gly325Trp)
AVIL NM_006576.3 +?/. - c.*1367C>A r.(=) p.(=)