ClinVar

NM_015102.5(NPHP4):c.3718T>C (p.Cys1240Arg)

Gene:

NPHP4:nephrocystin 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

• Chr1: 5865200 (on Assembly GRCh38)
• Chr1: 5925260 (on Assembly GRCh37)

Preferred name:

NM_015102.5(NPHP4):c.3718T>C (p.Cys1240Arg)

HGVS:

• NC_000001.11:g.5865200A>G
• NG_011724.2:g.132272T>C
• NM_001291593.2:c.2179T>C
• NM_001291594.2:c.2182T>C
• NM_015102.5:c.3718T>CMANE SELECT
• NP_001278522.1:p.Cys727Arg
• NP_001278523.1:p.Cys728Arg
• NP_055917.1:p.Cys1240Arg
• NC_000001.10:g.5925260A>G
• NM_015102.3:c.3718T>C
• NM_015102.4:c.3718T>C
• NR_111987.2:n.4485T>C

This HGVS expression did not pass validation

Protein change:

C1240R

Links:

dbSNP: rs1028037857

NCBI 1000 Genomes Browser:

rs1028037857

Molecular consequence:

• NM_001291593.2:c.2179T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291594.2:c.2182T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_015102.5:c.3718T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_111987.2:n.4485T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]