Variant (rsID / SNP)

rs201302313

rs201302313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HAND1. Location: chromosome 5, position 153,857,322. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HAND1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:153857322
Cytoband: 5q33.2
HGVS: NM_004821.3(HAND1):c.247G>T (p.Gly83Trp)
Allele change: Missense_G83W

Associated conditions / phenotypes

Hypoplastic left heart syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.