ClinVar

NM_014625.4(NPHS2):c.1086C>T (p.Pro362=)

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: 179551239 (on Assembly GRCh38)
• Chr1: 179520374 (on Assembly GRCh37)

Preferred name:

NM_014625.4(NPHS2):c.1086C>T (p.Pro362=)

HGVS:

• NC_000001.11:g.179551239G>A
• NG_007535.1:g.29711C>T
• NG_033075.1:g.190520G>A
• NM_001297575.2:c.882C>T
• NM_014625.4:c.1086C>TMANE SELECT
• NM_144696.6:c.3032-3273G>AMANE SELECT
• NP_001284504.1:p.Pro294=
• NP_055440.1:p.Pro362=
• NP_055440.1:p.Pro362=
• LRG_887t1:c.1086C>T
• LRG_887:g.29711C>T
• LRG_887p1:p.Pro362=
• NC_000001.10:g.179520374G>A
• NM_014625.3:c.1086C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2125763880

NCBI 1000 Genomes Browser:

rs2125763880

Molecular consequence:

• NM_144696.6:c.3032-3273G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001297575.2:c.882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014625.4:c.1086C>T - synonymous variant - [Sequence Ontology: SO:0001819]