Variant (rsID / SNP)

rs2295912

rs2295912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A6. Clinical significance in the table: Benign.

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Reference-table entries

COL4A6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq22.3
HGVS: NM_033641.4(COL4A6):c.3402C>T (p.Ala1134=)
Allele change: Synonymous_A1135A

Associated conditions / phenotypes

Hearing loss, X-linked 6

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.