ClinVar

NM_014625.4(NPHS2):c.1140T>C (p.Ser380=)

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: 179551185 (on Assembly GRCh38)
• Chr1: 179520320 (on Assembly GRCh37)

Preferred name:

NM_014625.4(NPHS2):c.1140T>C (p.Ser380=)

HGVS:

• NC_000001.11:g.179551185A>G
• NG_007535.1:g.29765T>C
• NG_033075.1:g.190466A>G
• NM_001297575.2:c.936T>C
• NM_014625.4:c.1140T>CMANE SELECT
• NM_144696.6:c.3032-3327A>GMANE SELECT
• NP_001284504.1:p.Ser312=
• NP_055440.1:p.Ser380=
• NP_055440.1:p.Ser380=
• LRG_887t1:c.1140T>C
• LRG_887:g.29765T>C
• LRG_887p1:p.Ser380=
• NC_000001.10:g.179520320A>G
• NM_014625.3:c.1140T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs199753342

NCBI 1000 Genomes Browser:

rs199753342

Molecular consequence:

• NM_144696.6:c.3032-3327A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001297575.2:c.936T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014625.4:c.1140T>C - synonymous variant - [Sequence Ontology: SO:0001819]