ClinVar

NM_015102.5(NPHP4):c.4006A>G (p.Ile1336Val)

Gene:

NPHP4:nephrocystin 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

• Chr1: 5864024 (on Assembly GRCh38)
• Chr1: 5924084 (on Assembly GRCh37)

Preferred name:

NM_015102.5(NPHP4):c.4006A>G (p.Ile1336Val)

HGVS:

• NC_000001.11:g.5864024T>C
• NG_011724.2:g.133448A>G
• NM_001291593.2:c.2467A>G
• NM_001291594.2:c.2470A>G
• NM_015102.4:c.4006A>G
• NM_015102.5:c.4006A>GMANE SELECT
• NP_001278522.1:p.Ile823Val
• NP_001278523.1:p.Ile824Val
• NP_055917.1:p.Ile1336Val
• NC_000001.10:g.5924084T>C
• NM_015102.3:c.4006A>G
• NR_111987.2:n.4773A>G

This HGVS expression did not pass validation

Protein change:

I1336V

Links:

dbSNP: rs760369582

NCBI 1000 Genomes Browser:

rs760369582

Molecular consequence:

• NM_001291593.2:c.2467A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291594.2:c.2470A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_015102.5:c.4006A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_111987.2:n.4773A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1