Variant #0000610262 (NC_000006.11:g.31696299G>A, NM_013974.1:c.400C>T (DDAH2))

Chromosome 6
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.31696299G>A
DNA change (hg38) g.31728522G>A
Published as DDAH2(NM_001303007.2):c.400C>T (p.R134W)
ISCN -
DB-ID C6orf25_000003
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) Retrieve
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 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLIC1 NM_001288.4 ?/. - c.*2320C>T r.(=) p.(=)
DDAH2 NM_013974.1 ?/. - c.400C>T r.(?) p.(Arg134Trp)
C6orf25 NM_138272.2 ?/. - c.*3448G>A r.(=) p.(=)


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