ClinVar

NM_014625.4(NPHS2):c.288C>T (p.Ser96=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.2

Genomic location:

• Chr1: 179564780 (on Assembly GRCh38)
• Chr1: 179533915 (on Assembly GRCh37)

Preferred name:

NM_014625.4(NPHS2):c.288C>T (p.Ser96=)

HGVS:

• NC_000001.11:g.179564780G>A
• NG_007535.1:g.16170C>T
• NM_001297575.2:c.288C>T
• NM_014625.4:c.288C>TMANE SELECT
• NP_001284504.1:p.Ser96=
• NP_055440.1:p.Ser96=
• NP_055440.1:p.Ser96=
• LRG_887t1:c.288C>T
• LRG_887:g.16170C>T
• LRG_887p1:p.Ser96=
• NC_000001.10:g.179533915G>A
• NM_014625.2:c.288C>T
• NM_014625.3:c.288C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs3738423

NCBI 1000 Genomes Browser:

rs3738423

Molecular consequence:

• NM_001297575.2:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014625.4:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]