ClinVar

NM_000063.6(C2):c.92C>T (p.Ser31Leu)

Gene:

C2:complement C2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 31928000 (on Assembly GRCh38)
• Chr6: 31895777 (on Assembly GRCh37)

Preferred name:

NM_000063.6(C2):c.92C>T (p.Ser31Leu)

HGVS:

• NC_000006.12:g.31928000C>T
• NG_011730.1:g.5512C>T
• NM_000063.4:c.92C>T
• NM_000063.6:c.92C>TMANE SELECT
• NM_001145903.3:c.46+202C>T
• NM_001178063.3:c.74-5610C>T
• NM_001282457.2:c.-63-5610C>T
• NM_001282458.2:c.-24C>T
• NM_001282459.2:c.92C>T
• NP_000054.2:p.Ser31Leu
• NP_001269388.1:p.Ser31Leu
• LRG_26t1:c.92C>T
• LRG_26:g.5512C>T
• NC_000006.11:g.31895777C>T

This HGVS expression did not pass validation

Protein change:

S31L

Links:

dbSNP: rs200412106

NCBI 1000 Genomes Browser:

rs200412106

Molecular consequence:

• NM_001282458.2:c.-24C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001178063.3:c.74-5610C>T - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
• NM_001282457.2:c.-63-5610C>T - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
• NM_001145903.3:c.46+202C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000063.6:c.92C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282459.2:c.92C>T - missense variant - [Sequence Ontology: SO:0001583]