Variant #0000328048 (NC_000002.11:g.202512466G>A, TMEM237(NM_001044385.2):c.-4343C>T)

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.202512466G>A
DNA change (hg38) g.201647743G>A
Published as MPP4(NM_033066.2):c.1667C>T (p.(Ser556Phe))
ISCN -
DB-ID MPP4_000002
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.-4343C>T r.(?) p.(=)
MPP4 NM_033066.2 ?/. - c.1667C>T r.(?) p.(Ser556Phe)