Genomic variant #0000261740

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.27890041T>C
DNA change (hg38) -
Published as ABHD15(NM_198147.2):c.945A>G (p.R315=)
ISCN -
DB-ID ABHD15_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TP53I13 NM_138349.2 -?/. - c.-5736T>C likely benign r.(?) p.(=)
ABHD15 NM_198147.2 -?/. - c.945A>G likely benign r.(?) p.(=)