ClinVar

NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)

Gene:

ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51912483 (on Assembly GRCh38)
• Chr12: 52306267 (on Assembly GRCh37)

Preferred name:

NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)

HGVS:

• NC_000012.12:g.51912483G>A
• NG_009549.1:g.10066G>A
• NM_000020.3:c.9G>AMANE SELECT
• NM_001077401.2:c.9G>A
• NP_000011.2:p.Leu3=
• NP_001070869.1:p.Leu3=
• LRG_543t1:c.9G>A
• LRG_543:g.10066G>A
• NC_000012.11:g.52306267G>A
• NM_000020.2:c.9G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs779236098

NCBI 1000 Genomes Browser:

rs779236098

Molecular consequence:

• NM_000020.3:c.9G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001077401.2:c.9G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1