ClinVar

NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)

Gene:

NPHS2:NPHS2 stomatin family member, podocin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.2

Genomic location:

• Chr1: 179561327 (on Assembly GRCh38)
• Chr1: 179530462 (on Assembly GRCh37)

Preferred name:

NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)

HGVS:

• NC_000001.11:g.179561327C>T
• NG_007535.1:g.19623G>A
• NM_001297575.2:c.413G>A
• NM_014625.4:c.413G>AMANE SELECT
• NP_001284504.1:p.Arg138Gln
• NP_055440.1:p.Arg138Gln
• NP_055440.1:p.Arg138Gln
• LRG_887t1:c.413G>A
• LRG_887:g.19623G>A
• LRG_887p1:p.Arg138Gln
• NC_000001.10:g.179530462C>T
• NM_001297575.2:c.413G>A
• NM_014625.2:c.413G>A
• NM_014625.3:c.413G>A
• Q9NP85:p.Arg138Gln
• p.ARG138GLN
• p.R138Q

This HGVS expression did not pass validation

Protein change:

R138Q; ARG138GLN

Links:

UniProtKB: Q9NP85#VAR_010233; OMIM: 604766.0001; dbSNP: rs74315342

NCBI 1000 Genomes Browser:

rs74315342

Molecular consequence:

• NM_001297575.2:c.413G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014625.4:c.413G>A - missense variant - [Sequence Ontology: SO:0001583]