ClinVar

NM_001130004.2(ACTN1):c.676+6A>G

Gene:

ACTN1:actinin alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.1

Genomic location:

• Chr14: 68904649 (on Assembly GRCh38)
• Chr14: 69371366 (on Assembly GRCh37)

Preferred name:

NM_001130004.2(ACTN1):c.676+6A>G

HGVS:

• NC_000014.9:g.68904649T>C
• NG_029480.1:g.79718A>G
• NM_001102.4:c.676+6A>G
• NM_001130004.2:c.676+6A>GMANE SELECT
• NM_001130005.2:c.676+6A>G
• LRG_886t1:c.676+6A>G
• LRG_886:g.79718A>G
• NC_000014.8:g.69371366T>C
• NC_000014.8:g.69371366T>C
• NM_001130004.1:c.676+6A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs147440695

NCBI 1000 Genomes Browser:

rs147440695

Molecular consequence:

• NM_001102.4:c.676+6A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001130004.2:c.676+6A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001130005.2:c.676+6A>G - intron variant - [Sequence Ontology: SO:0001627]