Variant #0000544864 (NC_000011.9:g.6412635G>A, NM_000543.4:c.340G>A (SMPD1))

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.6412635G>A
DNA change (hg38) g.6391405G>A
Published as SMPD1(NM_001318087.1):c.340G>A (p.V114M)
ISCN -
DB-ID SMPD1_000148 See all 2 reported entries
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) 0.00075 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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMPD1 NM_000543.4 ?/. - c.340G>A r.(?) p.(Val114Met)
APBB1 NM_001164.2 ?/. - c.*4129C>T r.(=) p.(=)


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