ClinVar

NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)

Genes:

HSPG2:heparan sulfate proteoglycan 2 [Gene - OMIM - HGNC]
LDLRAD2:low density lipoprotein receptor class A domain containing 2 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 21823347 (on Assembly GRCh38)
• Chr1: 22149840 (on Assembly GRCh37)

Preferred name:

NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)

HGVS:

• NC_000001.11:g.21823347G>T
• NG_016740.1:g.118911C>A
• NM_001013693.3:c.*1132G>TMANE SELECT
• NM_001291860.2:c.13148C>A
• NM_005529.7:c.13145C>AMANE SELECT
• NP_001278789.1:p.Ala4383Asp
• NP_005520.4:p.Ala4382Asp
• NC_000001.10:g.22149840G>T
• NM_005529.5:c.13145C>A
• NM_005529.6:c.13145C>A

This HGVS expression did not pass validation

Protein change:

A4382D

Links:

dbSNP: rs116316900

NCBI 1000 Genomes Browser:

rs116316900

Molecular consequence:

• NM_001013693.3:c.*1132G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001291860.2:c.13148C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005529.7:c.13145C>A - missense variant - [Sequence Ontology: SO:0001583]