ClinVar

NM_003240.5(LEFTY2):c.1030C>A (p.Pro344Thr)

Gene:

LEFTY2:left-right determination factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.12

Genomic location:

• Chr1: 225937512 (on Assembly GRCh38)
• Chr1: 226125212 (on Assembly GRCh37)

Preferred name:

NM_003240.5(LEFTY2):c.1030C>A (p.Pro344Thr)

HGVS:

• NC_000001.11:g.225937512G>T
• NG_008118.1:g.8709C>A
• NM_001172425.3:c.928C>A
• NM_003240.5:c.1030C>AMANE SELECT
• NP_001165896.1:p.Pro310Thr
• NP_003231.2:p.Pro344Thr
• NC_000001.10:g.226125212G>T
• NM_003240.3:c.1030C>A

This HGVS expression did not pass validation

Protein change:

P310T

Links:

dbSNP: rs777139964

NCBI 1000 Genomes Browser:

rs777139964

Molecular consequence:

• NM_001172425.3:c.928C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003240.5:c.1030C>A - missense variant - [Sequence Ontology: SO:0001583]