ClinVar

NM_000063.6(C2):c.165G>A (p.Leu55=)

Gene:

C2:complement C2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 31928073 (on Assembly GRCh38)
• Chr6: 31895850 (on Assembly GRCh37)

Preferred name:

NM_000063.6(C2):c.165G>A (p.Leu55=)

HGVS:

• NC_000006.12:g.31928073G>A
• NG_011730.1:g.5585G>A
• NM_000063.6:c.165G>AMANE SELECT
• NM_001145903.3:c.46+275G>A
• NM_001178063.3:c.74-5537G>A
• NM_001282457.2:c.-63-5537G>A
• NM_001282458.2:c.50G>A
• NM_001282459.2:c.165G>A
• NP_000054.2:p.Leu55=
• NP_001269387.1:p.Cys17Tyr
• NP_001269388.1:p.Leu55=
• LRG_26:g.5585G>A
• NC_000006.11:g.31895850G>A

This HGVS expression did not pass validation

Protein change:

C17Y

Links:

dbSNP: rs1008127965

NCBI 1000 Genomes Browser:

rs1008127965

Molecular consequence:

• NM_001178063.3:c.74-5537G>A - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
• NM_001282457.2:c.-63-5537G>A - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
• NM_001145903.3:c.46+275G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282458.2:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_000063.6:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282459.2:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]