Variant #0000552637 (NC_000014.8:g.51372120T>C, PYGL(NM_002863.4):c.2534A>G)

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.51372120T>C
DNA change (hg38) g.50905402T>C
Published as PYGL(NM_001163940.1):c.2432A>G (p.(Asn811Ser))
ISCN -
DB-ID ABHD12B_000001
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) 0.00382 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12B NM_001206673.1 -?/. - c.*1036T>C r.(=) p.(=)
PYGL NM_002863.4 -?/. - c.2534A>G r.(?) p.(Asn845Ser)