Variant #0000525820 (NC_000005.9:g.52402948T>A, NM_176806.3:c.244A>T (MOCS2))

Chromosome 5
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.52402948T>A
DNA change (hg38) g.53107118T>A
Published as MOCS2(NM_004531.4):c.57A>T (p.L19F)
ISCN -
DB-ID MOCS2_000014
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) 2.0E-5 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 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MOCS2 NM_004531.4 ?/. - c.57A>T r.(?) p.(Leu19Phe)
MOCS2 NM_176806.3 ?/. - c.244A>T r.(?) p.(Ile82Phe)


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