ClinVar

NM_014625.4(NPHS2):c.452-21C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.2

Genomic location:

• Chr1: 179559782 (on Assembly GRCh38)
• Chr1: 179528917 (on Assembly GRCh37)

Preferred name:

NM_014625.4(NPHS2):c.452-21C>T

HGVS:

• NC_000001.11:g.179559782G>A
• NG_007535.1:g.21168C>T
• NM_001297575.2:c.452-21C>T
• NM_014625.4:c.452-21C>TMANE SELECT
• LRG_887t1:c.452-21C>T
• LRG_887:g.21168C>T
• NC_000001.10:g.179528917G>A
• NM_014625.3:c.452-21C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs12401708

NCBI 1000 Genomes Browser:

rs12401708

Molecular consequence:

• NM_001297575.2:c.452-21C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_014625.4:c.452-21C>T - intron variant - [Sequence Ontology: SO:0001627]