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Variant (rsID / SNP)

rs387907088

MSRB3

rs387907088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSRB3. Location: chromosome 12, position 65,722,364. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MSRB3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:65722364
Cytoband
12q14.3
HGVS
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly)
Allele change
Missense_C89G

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 74|Hearing loss, autosomal recessive

Public references

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