Variant (rsID / SNP)

rs145494248

rs145494248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGF. Location: chromosome 7, position 81,334,825. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HGFConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:81334825
Cytoband: 7q21.11
HGVS: NM_000601.6(HGF):c.1891G>A (p.Val631Met)
Allele change: Missense_V631M

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 39

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.