ClinVar

NM_021072.4(HCN1):c.528T>C (p.Ile176=)

Gene:

HCN1:hyperpolarization activated cyclic nucleotide gated potassium channel 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p12

Genomic location:

• Chr5: 45645506 (on Assembly GRCh38)
• Chr5: 45645608 (on Assembly GRCh37)

Preferred name:

NM_021072.4(HCN1):c.528T>C (p.Ile176=)

HGVS:

• NC_000005.10:g.45645506A>G
• NG_042183.1:g.55613T>C
• NM_021072.4:c.528T>CMANE SELECT
• NP_066550.2:p.Ile176=
• NC_000005.9:g.45645608A>G
• NM_021072.3:c.528T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs386352316

NCBI 1000 Genomes Browser:

rs386352316

Molecular consequence:

• NM_021072.4:c.528T>C - synonymous variant - [Sequence Ontology: SO:0001819]