ClinVar

NM_001103.4(ACTN2):c.18C>A (p.Pro6=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 236686691 (on Assembly GRCh38)
• Chr1: 236849991 (on Assembly GRCh37)

Preferred name:

NM_001103.4(ACTN2):c.18C>A (p.Pro6=)

HGVS:

• NC_000001.11:g.236686691C>A
• NG_009081.2:g.27551C>A
• NM_001103.4:c.18C>AMANE SELECT
• NM_001278343.2:c.18C>A
• NM_001278344.2:c.-804C>A
• NP_001094.1:p.Pro6=
• NP_001094.1:p.Pro6=
• NP_001265272.1:p.Pro6=
• LRG_436t1:c.18C>A
• LRG_436:g.27551C>A
• LRG_436p1:p.Pro6=
• NC_000001.10:g.236849991C>A
• NG_009081.1:g.5222C>A
• NM_001103.2:c.18C>A
• NM_001103.3:c.18C>A
• p.Pro6Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs368367224

NCBI 1000 Genomes Browser:

rs368367224

Molecular consequence:

• NM_001278344.2:c.-804C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001103.4:c.18C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278343.2:c.18C>A - synonymous variant - [Sequence Ontology: SO:0001819]