ClinVar

NM_001256789.3(CACNA1F):c.2968G>A (p.Gly990Arg)

Gene:

CACNA1F:calcium voltage-gated channel subunit alpha1 F [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 49217966 (on Assembly GRCh38)
• ChrX: 49074425 (on Assembly GRCh37)

Preferred name:

NM_001256789.3(CACNA1F):c.2968G>A (p.Gly990Arg)

HGVS:

• NC_000023.11:g.49217966C>T
• NG_009095.2:g.20401G>A
• NM_001256789.3:c.2968G>AMANE SELECT
• NM_001256790.3:c.2806G>A
• NM_005183.4:c.3001G>A
• NP_001243718.1:p.Gly990Arg
• NP_001243719.1:p.Gly936Arg
• NP_005174.2:p.Gly1001Arg
• NC_000023.10:g.49074425C>T
• NM_005183.2:c.3001G>A

This HGVS expression did not pass validation

Protein change:

G1001R

Links:

dbSNP: rs782473510

NCBI 1000 Genomes Browser:

rs782473510

Molecular consequence:

• NM_001256789.3:c.2968G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256790.3:c.2806G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005183.4:c.3001G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1