chr6:137528197:>GTAA Detail (hg19) (IFNGR1)

Information

Genome

Assembly Position
hg19 chr6:137,528,197-137,528,197
hg38 chr6:137,207,060-137,207,060 

HGVS

Type Transcript Protein
RefSeq NM_000416.2:c.102_103insTTAC NP_000407.1:p.Ile37TyrfsTer3
Ensemble ENST00000367739.9:c.102_103insTTAC ENST00000367739.9:p.Ile37TyrfsTer3
ENST00000414770.6:c.72_73insTTAC ENST00000414770.6:p.Ile27TyrfsTer3
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 107470 OMIM
HGNC 5439 HGNC
Ensembl ENSG00000027697 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1998-03-01 no assertion criteria provided immunodeficiency 27A germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000416.3(IFNGR1):c.104_107dup (p.Ile37fs) AND Immunodeficiency 27A ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776854 dbSNP
Genome
hg19
Position
chr6:137,528,197-137,528,197
Variant Type
snv
Reference Allele
-
Alternative Allele
GTAA
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