ClinVar

NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 236744668 (on Assembly GRCh38)
• Chr1: 236907968 (on Assembly GRCh37)

Preferred name:

NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu)

Other names:

p.S433L:TCG>TTG

HGVS:

• NC_000001.11:g.236744668C>T
• NG_009081.2:g.85528C>T
• NM_001103.4:c.1298C>TMANE SELECT
• NM_001278343.2:c.1298C>T
• NM_001278344.2:c.674C>T
• NP_001094.1:p.Ser433Leu
• NP_001094.1:p.Ser433Leu
• NP_001265272.1:p.Ser433Leu
• NP_001265273.1:p.Ser225Leu
• LRG_436t1:c.1298C>T
• LRG_436:g.85528C>T
• LRG_436p1:p.Ser433Leu
• NC_000001.10:g.236907968C>T
• NG_009081.1:g.63199C>T
• NM_001103.2:c.1298C>T
• NM_001103.3:c.1298C>T

This HGVS expression did not pass validation

Protein change:

S225L

Links:

dbSNP: rs143749154

NCBI 1000 Genomes Browser:

rs143749154

Molecular consequence:

• NM_001103.4:c.1298C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278343.2:c.1298C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278344.2:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]