ClinVar

NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)

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: 21823637 (on Assembly GRCh38)
• Chr1: 22150130 (on Assembly GRCh37)

Preferred name:

NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)

HGVS:

• NC_000001.11:g.21823637C>T
• NG_016740.1:g.118621G>A
• NM_001013693.3:c.*1422C>TMANE SELECT
• NM_001291860.2:c.12985G>A
• NM_005529.7:c.12982G>AMANE SELECT
• NP_001278789.1:p.Ala4329Thr
• NP_005520.4:p.Ala4328Thr
• NC_000001.10:g.22150130C>T
• NM_005529.5:c.12982G>A
• NM_005529.6:c.12982G>A

This HGVS expression did not pass validation

Protein change:

A4328T

Links:

dbSNP: rs114015043

NCBI 1000 Genomes Browser:

rs114015043

Molecular consequence:

• NM_001013693.3:c.*1422C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001291860.2:c.12985G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005529.7:c.12982G>A - missense variant - [Sequence Ontology: SO:0001583]