ClinVar

NM_015991.4(C1QA):c.470G>A (p.Gly157Asp)

Gene:

C1QA:complement C1q A chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 22639139 (on Assembly GRCh38)
• Chr1: 22965632 (on Assembly GRCh37)

Preferred name:

NM_015991.4(C1QA):c.470G>A (p.Gly157Asp)

HGVS:

• NC_000001.11:g.22639139G>A
• NG_007282.1:g.7515G>A
• NG_007565.1:g.515G>A
• NM_001347465.2:c.470G>A
• NM_001347466.2:c.470G>A
• NM_015991.4:c.470G>AMANE SELECT
• NP_001334394.1:p.Gly157Asp
• NP_001334395.1:p.Gly157Asp
• NP_057075.1:p.Gly157Asp
• LRG_22t1:c.470G>A
• LRG_22:g.7515G>A
• LRG_24:g.515G>A
• NC_000001.10:g.22965632G>A
• NM_001347465.1:c.470G>A
• NM_015991.2:c.470G>A

This HGVS expression did not pass validation

Protein change:

G157D

Links:

dbSNP: rs1570073403

NCBI 1000 Genomes Browser:

rs1570073403

Molecular consequence:

• NM_001347465.2:c.470G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347466.2:c.470G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015991.4:c.470G>A - missense variant - [Sequence Ontology: SO:0001583]