Variant (rsID / SNP)
rs142045938
rs142045938 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGF. Location: chromosome 7, position 81,386,516. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HGFConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:81386516
- Cytoband
- 7q21.11
- HGVS
- NM_000601.6(HGF):c.471A>G (p.Pro157=)
- Allele change
- Synonymous_P157P
Associated conditions / phenotypes
Nonsyndromic Hearing Loss, Mixed
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.