Variant #0000693503 (NC_000023.10:g.17744889T>C, NHS(NM_198270.2):c.2600T>C)

Chromosome X
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.17744889T>C
DNA change (hg38) -
Published as NHS(NM_001291867.1):c.2663T>C (p.M888T), NHS(NM_001291867.2):c.2663T>C (p.M888T)
ISCN -
DB-ID NHS_000081 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) 3.0E-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 2020-09-15 15:50:26 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NHS NM_198270.2 ?/. - c.2600T>C r.(?) p.(Met867Thr)