ClinVar

NM_021098.3(CACNA1H):c.108G>C (p.Pro36=)

Gene:

CACNA1H:calcium voltage-gated channel subunit alpha1 H [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 1153845 (on Assembly GRCh38)
• Chr16: 1203845 (on Assembly GRCh37)

Preferred name:

NM_021098.3(CACNA1H):c.108G>C (p.Pro36=)

HGVS:

• NC_000016.10:g.1153845G>C
• NG_012647.1:g.5605G>C
• NM_001005407.2:c.108G>C
• NM_021098.3:c.108G>CMANE SELECT
• NP_001005407.1:p.Pro36=
• NP_066921.2:p.Pro36=
• NC_000016.9:g.1203845G>C
• NM_021098.2:c.108G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs28365126

NCBI 1000 Genomes Browser:

rs28365126

Molecular consequence:

• NM_001005407.2:c.108G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021098.3:c.108G>C - synonymous variant - [Sequence Ontology: SO:0001819]