Variants
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rs199476094

  • Pathogenic

Your Genotype

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Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 7581371, 9521593, 27782177, 29633482, 29529603, 31160911, 23300259, 10923038, 10200984, 22508176, 9452060, 33100332, 9044320, 25525159)

This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant appears to segregate with disease in at least one family, however, the available information does not rule out segregation due to chance. This variant is also referred to as c.12124C>T;p.Gln4042Ter or c.12332C>T in published literature.

Reference Allele

G


Alternative Allele

A

Chromosome

16


Location

2090688


Variant Type

SNP

Genes

ClinVar

Name

NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)


Allele

A


Clinical Significance

Pathogenic

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