Variant (rsID / SNP)

rs139908851

rs139908851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARVELD2. Location: chromosome 5, position 68,716,312. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MARVELD2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:68716312
Cytoband: 5q13.2
HGVS: NM_001038603.3(MARVELD2):c.1100G>T (p.Arg367Met)
Allele change: Missense_R367M

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.