Variant #0000611553 (NC_000008.10:g.17928842T>C, NM_004315.4:c.231A>G (ASAH1))

Chromosome 8
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.17928842T>C
DNA change (hg38) g.18071333T>C
Published as ASAH1(NM_177924.5):c.183A>G (p.R61=)
ISCN -
DB-ID ASAH1_000059
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) 0.00031 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2020-06-23 17:43:58 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ASAH1 NM_004315.4 -?/. - c.231A>G r.(?) p.(Arg77=)


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