Variant #0000657453 (NC_000014.8:g.51375683A>T, PYGL(NM_002863.4):c.2178-10T>A)

Chromosome 14
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.51375683A>T
DNA change (hg38) g.50908965A>T
Published as PYGL(NM_002863.4):c.2178-10T>A
ISCN -
DB-ID ABHD12B_000002
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     
ABHD12B NM_001206673.1 -?/. - c.*4599A>T r.(=) p.(=)
PYGL NM_002863.4 -?/. - c.2178-10T>A r.(=) p.(=)