Variant #0000517406 (NC_000003.11:g.111697987C>T, ABHD10(NM_018394.2):c.79C>T)

Chromosome 3
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.111697987C>T
DNA change (hg38) g.111979140C>T
Published as ABHD10(NM_001272069.1):c.79C>T (p.(Pro27Ser))
ISCN -
DB-ID PHLDB2_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) 0.00084 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     
ABHD10 NM_018394.2 -?/. - c.79C>T r.(?) p.(Pro27Ser)
PHLDB2 NM_145753.2 -?/. - c.*4577C>T r.(=) p.(=)
PLCXD2 NM_153268.3 -?/. - c.*133271C>T r.(=) p.(=)