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Variant (rsID / SNP)

rs61736168

MARVELD2

rs61736168 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARVELD2. Location: chromosome 5, position 68,728,824. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MARVELD2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:68728824
Cytoband
5q13.2
HGVS
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)
Allele change
Synonymous_Y469Y

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 49

Public references

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