ClinVar

NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)

Gene:

NPHP4:nephrocystin 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

• Chr1: 5887436 (on Assembly GRCh38)
• Chr1: 5947496 (on Assembly GRCh37)

Preferred name:

NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)

HGVS:

• NC_000001.11:g.5887436G>A
• NG_011724.2:g.110036C>T
• NM_001291593.2:c.796C>T
• NM_001291594.2:c.799C>T
• NM_015102.5:c.2335C>TMANE SELECT
• NP_001278522.1:p.Gln266Ter
• NP_001278523.1:p.Gln267Ter
• NP_055917.1:p.Gln779Ter
• NC_000001.10:g.5947496G>A
• NM_015102.4:c.2335C>T
• NR_111987.2:n.2552C>T

This HGVS expression did not pass validation

Protein change:

Q266*; GLN779TER

Links:

OMIM: 607215.0006; dbSNP: rs137852922

NCBI 1000 Genomes Browser:

rs137852922

Molecular consequence:

• NR_111987.2:n.2552C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001291593.2:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001291594.2:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_015102.5:c.2335C>T - nonsense - [Sequence Ontology: SO:0001587]