ClinVar Genomic variation as it relates to human health
HAVCR1, 6-AA INS
Germline
Classification
(1)
Affects
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
HAVCR1 | - | - |
GRCh38 GRCh37 |
46 | 64 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Affects (1) |
|
Oct 9, 2003 | RCV000004491.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 17, 2022
The allele represented in the RefSeqGene NG_017001.1 appears to be 157insMTTVP, NG_017001.1:g.11398_11412. Because the nucleotide sequence of the insert generating 157insMTTTVP has not been found, NCBI staff did not generate an HGVS expression for this insert.