Variant (rsID / SNP)
rs374793617
rs374793617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS3. Location: chromosome 21, position 43,808,641. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TMPRSS3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:43808641
- Cytoband
- 21q22.3
- HGVS
- NM_001256317.3(TMPRSS3):c.323-6G>A
- Allele change
- Silent
Associated conditions / phenotypes
Rare genetic deafness|Childhood onset hearing loss|Hearing loss, autosomal recessive|Hearing impairment|Autosomal recessive nonsyndromic hearing loss 8
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.