Variant #0000616825 (NC_000017.10:g.74289894T>C, QRICH2(NM_032134.1):c.416A>G)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.74289894T>C
DNA change (hg38) g.76293813T>C
Published as QRICH2(NM_032134.2):c.416A>G (p.K139R)
ISCN -
DB-ID QRICH2_000002
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
QRICH2 NM_032134.1 -?/. - c.416A>G r.(?) p.(Lys139Arg)