Variant #0000016690 (NC_000011.9:g.2580C>T, TMEM151A(NM_153266.4):c.203C>T)

Chromosome 11
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type Substitution
DNA change (genomic) (Relative to hg19 / GRCh37) g.2580C>T
Reference GenBank
DB-ID TMEM151A_000203
Frequency 1/521 patients
Variant remarks identified in one PKD family (Mov Disord. 2022;37(3):545-552.)
ClassClinical -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Yulan Chen
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Yulan Chen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM151A NM_153266.4 +?/+? 2 c.203C>T r.203c>u p.P68L