Variant (rsID / SNP)

rs118203957

rs118203957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARVELD2. Location: chromosome 5, position 68,728,915. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MARVELD2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:68728915
Cytoband: 5q13.2
HGVS: NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
Allele change: Nonsense_R500X

Associated conditions / phenotypes

Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 49|Ear malformation

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.