Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs139854607

MARVELD2

rs139854607 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARVELD2. Location: chromosome 5, position 68,715,712. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MARVELD2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:68715712
Cytoband
5q13.2
HGVS
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg)
Allele change
Missense_Q167R

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.