ClinVar

NM_000020.3(ACVRL1):c.294C>T (p.Asn98=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51913331 (on Assembly GRCh38)
• Chr12: 52307115 (on Assembly GRCh37)

Preferred name:

NM_000020.3(ACVRL1):c.294C>T (p.Asn98=)

HGVS:

• NC_000012.12:g.51913331C>T
• NG_009549.1:g.10914C>T
• NM_000020.3:c.294C>TMANE SELECT
• NM_001077401.2:c.294C>T
• NP_000011.2:p.Asn98=
• NP_001070869.1:p.Asn98=
• LRG_543t1:c.294C>T
• LRG_543:g.10914C>T
• NC_000012.11:g.52307115C>T
• NM_000020.2:c.294C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs141429164

NCBI 1000 Genomes Browser:

rs141429164

Molecular consequence:

• NM_000020.3:c.294C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001077401.2:c.294C>T - synonymous variant - [Sequence Ontology: SO:0001819]