Variant #0000654492 (NC_000002.11:g.202498112G>C, TMEM237(NM_001044385.2):c.317C>G)

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.202498112G>C
DNA change (hg38) g.201633389G>C
Published as TMEM237(NM_152388.3):c.293C>G (p.S98C), TMEM237(NM_152388.4):c.293C>G (p.S98C)
ISCN -
DB-ID TMEM237_000027 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM237 NM_001044385.2 ?/. - c.317C>G r.(?) p.(Ser106Cys)