ClinVar

NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)

Gene:

NPHS1:NPHS1 adhesion molecule, nephrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.12

Genomic location:

• Chr19: 35845496 (on Assembly GRCh38)
• Chr19: 36336398 (on Assembly GRCh37)

Preferred name:

NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)

HGVS:

• NC_000019.10:g.35845496C>G
• NG_013356.2:g.28792G>C
• NM_004646.4:c.1802G>CMANE SELECT
• NP_004637.1:p.Gly601Ala
• NP_004637.1:p.Gly601Ala
• LRG_693t1:c.1802G>C
• LRG_693:g.28792G>C
• LRG_693p1:p.Gly601Ala
• NC_000019.9:g.36336398C>G
• NM_004646.3:c.1802G>C

This HGVS expression did not pass validation

Protein change:

G601A

Links:

dbSNP: rs114615449

NCBI 1000 Genomes Browser:

rs114615449

Molecular consequence:

• NM_004646.4:c.1802G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1