ClinVar

NM_014625.4(NPHS2):c.874-129A>G

Genes:

LOC129931999:ATAC-STARR-seq lymphoblastoid silent region 1590 [Gene]
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: 179551580 (on Assembly GRCh38)
• Chr1: 179520715 (on Assembly GRCh37)

Preferred name:

NM_014625.4(NPHS2):c.874-129A>G

HGVS:

• NC_000001.11:g.179551580T>C
• NG_007535.1:g.29370A>G
• NG_033075.1:g.190861T>C
• NG_165042.1:g.134T>C
• NM_001297575.2:c.670-129A>G
• NM_014625.4:c.874-129A>GMANE SELECT
• NM_144696.6:c.3032-2932T>CMANE SELECT
• LRG_887:g.29370A>G
• NC_000001.10:g.179520715T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs16854337

NCBI 1000 Genomes Browser:

rs16854337

Molecular consequence:

• NM_001297575.2:c.670-129A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_014625.4:c.874-129A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_144696.6:c.3032-2932T>C - intron variant - [Sequence Ontology: SO:0001627]