ClinVar

NM_014625.4(NPHS2):c.87C>G (p.Ala29=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.2

Genomic location:

• Chr1: 179575778 (on Assembly GRCh38)
• Chr1: 179544913 (on Assembly GRCh37)

Preferred name:

NM_014625.4(NPHS2):c.87C>G (p.Ala29=)

HGVS:

• NC_000001.11:g.179575778G>C
• NG_007535.1:g.5172C>G
• NM_001297575.2:c.87C>G
• NM_014625.4:c.87C>GMANE SELECT
• NP_001284504.1:p.Ala29=
• NP_055440.1:p.Ala29=
• NP_055440.1:p.Ala29=
• LRG_887t1:c.87C>G
• LRG_887:g.5172C>G
• LRG_887p1:p.Ala29=
• NC_000001.10:g.179544913G>C
• NM_014625.2:c.87C>G
• NM_014625.3:c.87C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs12123397

NCBI 1000 Genomes Browser:

rs12123397

Molecular consequence:

• NM_001297575.2:c.87C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014625.4:c.87C>G - synonymous variant - [Sequence Ontology: SO:0001819]