ClinVar

NM_014625.4(NPHS2):c.874-309G>C

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: 179551760 (on Assembly GRCh38)
• Chr1: 179520895 (on Assembly GRCh37)

Preferred name:

NM_014625.4(NPHS2):c.874-309G>C

HGVS:

• NC_000001.11:g.179551760C>G
• NG_007535.1:g.29190G>C
• NG_033075.1:g.191041C>G
• NM_001297575.2:c.670-309G>C
• NM_014625.4:c.874-309G>CMANE SELECT
• NM_144696.6:c.3032-2752C>GMANE SELECT
• LRG_887:g.29190G>C
• NC_000001.10:g.179520895C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs186799757

NCBI 1000 Genomes Browser:

rs186799757

Molecular consequence:

• NM_001297575.2:c.670-309G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_014625.4:c.874-309G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_144696.6:c.3032-2752C>G - intron variant - [Sequence Ontology: SO:0001627]