ClinVar

NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)

Gene:

ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 236762535 (on Assembly GRCh38)
• Chr1: 236925835 (on Assembly GRCh37)

Preferred name:

NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)

HGVS:

• NC_000001.11:g.236762535C>T
• NG_009081.2:g.103395C>T
• NM_001103.4:c.2601C>TMANE SELECT
• NM_001278343.2:c.2601C>T
• NM_001278344.2:c.1977C>T
• NP_001094.1:p.Pro867=
• NP_001094.1:p.Pro867=
• NP_001265272.1:p.Pro867=
• NP_001265273.1:p.Pro659=
• LRG_436t1:c.2601C>T
• LRG_436:g.103395C>T
• LRG_436p1:p.Pro867=
• NC_000001.10:g.236925835C>T
• NG_009081.1:g.81066C>T
• NM_001103.2:c.2601C>T
• NM_001103.3:c.2601C>T
• p.Pro867Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs147245615

NCBI 1000 Genomes Browser:

rs147245615

Molecular consequence:

• NM_001103.4:c.2601C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278343.2:c.2601C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278344.2:c.1977C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1