Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs150434290

MARVELD2

rs150434290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARVELD2. Location: chromosome 5, position 68,715,388. 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
5:68715388
Cytoband
5q13.2
HGVS
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu)
Allele change
Missense_P59L

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.