Variant #0000327254 (NC_000002.11:g.138722149C>T, NM_006895.2:c.88C>T (HNMT))

Chromosome 2
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.138722149C>T
DNA change (hg38) g.137964579C>T
Published as HNMT(NM_006895.2):c.88C>T (p.(Gln30Ter))
ISCN -
DB-ID HNMT_000001
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 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2022-05-09 15:24:52 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HNMT NM_006895.2 ?/. - c.88C>T r.(?) p.(Gln30Ter)


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