ClinVar

NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51914038 (on Assembly GRCh38)
• Chr12: 52307822 (on Assembly GRCh37)

Preferred name:

NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys)

HGVS:

• NC_000012.12:g.51914038C>A
• NG_009549.1:g.11621C>A
• NM_000020.3:c.590C>AMANE SELECT
• NM_001077401.2:c.590C>A
• NP_000011.2:p.Thr197Lys
• NP_000011.2:p.Thr197Lys
• NP_001070869.1:p.Thr197Lys
• LRG_543t1:c.590C>A
• LRG_543:g.11621C>A
• LRG_543p1:p.Thr197Lys
• NC_000012.11:g.52307822C>A
• NM_000020.2:c.590C>A

This HGVS expression did not pass validation

Protein change:

T197K

Links:

dbSNP: rs1555152796

NCBI 1000 Genomes Browser:

rs1555152796

Molecular consequence:

• NM_000020.3:c.590C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077401.2:c.590C>A - missense variant - [Sequence Ontology: SO:0001583]