ClinVar

NM_005159.5(ACTC1):c.267C>T (p.His89=)

Genes:

GJD2-DT:GJD2 divergent transcript [Gene - HGNC]
ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

• Chr15: 34793432 (on Assembly GRCh38)
• Chr15: 35085633 (on Assembly GRCh37)

Preferred name:

NM_005159.5(ACTC1):c.267C>T (p.His89=)

HGVS:

• NC_000015.10:g.34793432G>A
• NG_007553.1:g.7295C>T
• NM_001406482.1:c.267C>T
• NM_001406483.1:c.267C>T
• NM_001406484.1:c.132C>T
• NM_001406485.1:c.-122C>T
• NM_005159.5:c.267C>TMANE SELECT
• NP_001393411.1:p.His89=
• NP_001393412.1:p.His89=
• NP_001393413.1:p.His44=
• NP_005150.1:p.His89=
• NP_005150.1:p.His89=
• LRG_388t1:c.267C>T
• LRG_388:g.7295C>T
• LRG_388p1:p.His89=
• NC_000015.9:g.35085633G>A
• NM_005159.4:c.267C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001406485.1:c.-122C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001406482.1:c.267C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406483.1:c.267C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406484.1:c.132C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005159.5:c.267C>T - synonymous variant - [Sequence Ontology: SO:0001819]