Variant #0000328044 (NC_000002.11:g.202483675G>T, TMEM237(NM_001044385.2):c.*5303C>A)

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.202483675G>T
DNA change (hg38) g.201618952G>T
Published as ALS2CR11(NM_001168216.1):c.179C>A (p.(Thr60Lys))
ISCN -
DB-ID ALS2CR11_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM237 NM_001044385.2 ?/. - c.*5303C>A r.(=) p.(=)
ALS2CR11 NM_152525.5 ?/. - c.179C>A r.(?) p.(Thr60Lys)