Variant (rsID / SNP)

rs141952919

rs141952919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A5. Location: chromosome 7, position 103,061,825. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC26A5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:103061825
Cytoband: 7q22.1
HGVS: NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro)
Allele change: Missense_L46P

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 61

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.