ClinVar

NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)

Genes:

NPHS2:NPHS2 stomatin family member, podocin [Gene - OMIM - HGNC]
AXDND1:axonemal dynein light chain domain containing 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.2

Genomic location:

• Chr1: 179551261 (on Assembly GRCh38)
• Chr1: 179520396 (on Assembly GRCh37)

Preferred name:

NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)

HGVS:

• NC_000001.11:g.179551261T>C
• NG_007535.1:g.29689A>G
• NG_033075.1:g.190542T>C
• NM_001297575.2:c.860A>G
• NM_014625.4:c.1064A>GMANE SELECT
• NM_144696.6:c.3032-3251T>CMANE SELECT
• NP_001284504.1:p.Asn287Ser
• NP_055440.1:p.Asn355Ser
• NP_055440.1:p.Asn355Ser
• LRG_887t1:c.1064A>G
• LRG_887:g.29689A>G
• LRG_887p1:p.Asn355Ser
• NC_000001.10:g.179520396T>C
• NM_014625.3:c.1064A>G

This HGVS expression did not pass validation

Protein change:

N287S

Links:

dbSNP: rs1040479346

NCBI 1000 Genomes Browser:

rs1040479346

Molecular consequence:

• NM_144696.6:c.3032-3251T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001297575.2:c.860A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014625.4:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]