Variant #0000690178 (NC_000008.10:g.143822694T>C, SLURP1(NM_020427.2):c.179A>G)

Chromosome 8
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.143822694T>C
DNA change (hg38) -
Published as SLURP1(NM_020427.2):c.179A>G (p.E60G)
ISCN -
DB-ID SLURP1_000003
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
THEM6 NM_016647.2 ?/. - c.*5837T>C r.(=) p.(=)
SLURP1 NM_020427.2 ?/. - c.179A>G r.(?) p.(Glu60Gly)