Variant (rsID / SNP)

rs104893975

rs104893975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LHFPL5. Location: chromosome 6, position 35,773,827. Clinical significance in the table: Pathogenic.

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Reference-table entries

LHFPL5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:35773827
Cytoband: 6p21.31
HGVS: NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys)
Allele change: Missense_Y127C

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 67

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.