Variant (rsID / SNP)

rs1185246

rs1185246 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARVELD2. Location: chromosome 5, position 68,715,310. Clinical significance in the table: Benign.

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Reference-table entries

MARVELD2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:68715310
Cytoband: 5q13.2
HGVS: NM_001038603.3(MARVELD2):c.98C>T (p.Thr33Ile)
Allele change: Missense_T33I

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 49

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.