ClinVar

NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)

Gene:

CACNB2:calcium voltage-gated channel auxiliary subunit beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p12.31

Genomic location:

• Chr10: 18539411 (on Assembly GRCh38)
• Chr10: 18828340 (on Assembly GRCh37)

Preferred name:

NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)

Other names:

p.S502L:TCG>TTG

HGVS:

• NC_000010.11:g.18539411C>T
• NG_016195.1:g.403735C>T
• NM_000724.4:c.1505C>T
• NM_001167945.2:c.1472C>T
• NM_001330060.2:c.1391C>T
• NM_201570.3:c.1526C>T
• NM_201571.4:c.1586C>T
• NM_201572.4:c.1514C>T
• NM_201590.3:c.1508C>T
• NM_201593.3:c.1556C>T
• NM_201596.3:c.1670C>TMANE SELECT
• NM_201597.3:c.1598C>T
• NP_000715.2:p.Ser502Leu
• NP_001161417.1:p.Ser491Leu
• NP_001316989.1:p.Ser464Leu
• NP_963864.1:p.Ser509Leu
• NP_963865.2:p.Ser529Leu
• NP_963866.2:p.Ser505Leu
• NP_963884.2:p.Ser503Leu
• NP_963887.2:p.Ser519Leu
• NP_963890.2:p.Ser557Leu
• NP_963891.1:p.Ser533Leu
• LRG_381t1:c.1670C>T
• LRG_381t2:c.1508C>T
• LRG_381:g.403735C>T
• LRG_381p1:p.Ser557Leu
• LRG_381p2:p.Ser503Leu
• NC_000010.10:g.18828340C>T
• NM_000724.3:c.1505C>T
• NM_201590.2:c.1508C>T

This HGVS expression did not pass validation

Protein change:

S464L

Links:

dbSNP: rs137886839

NCBI 1000 Genomes Browser:

rs137886839

Molecular consequence:

• NM_000724.4:c.1505C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167945.2:c.1472C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330060.2:c.1391C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201570.3:c.1526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201571.4:c.1586C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201572.4:c.1514C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201590.3:c.1508C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201593.3:c.1556C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201596.3:c.1670C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201597.3:c.1598C>T - missense variant - [Sequence Ontology: SO:0001583]