Variant #0000570539 (NC_000021.8:g.34804607T>C, IFNGR2(NM_005534.3):c.685T>C)

Chromosome 21
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.34804607T>C
DNA change (hg38) g.33432300T>C
Published as IFNGR2(NM_001329128.1):c.742T>C (p.L248=)
ISCN -
DB-ID IFNGR2_000041
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-07-16 22:06:47 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IFNGR2 NM_005534.3 -?/. - c.685T>C r.(?) p.(Leu229=)