ClinVar

NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)

Gene:

LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

• Chr10: 86716434 (on Assembly GRCh38)
• Chr10: 88476191 (on Assembly GRCh37)

Preferred name:

NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)

HGVS:

• NC_000010.11:g.86716434C>G
• NG_008876.1:g.52871C>G
• NM_001080114.2:c.1009C>G
• NM_001171610.2:c.1354C>G
• NM_001368064.1:c.1150C>G
• NM_001368065.1:c.1150C>G
• NM_001368066.1:c.1198C>G
• NM_007078.3:c.1339C>GMANE SELECT
• NP_001073583.1:p.Pro337Ala
• NP_001165081.1:p.Pro452Ala
• NP_001354993.1:p.Pro384Ala
• NP_001354994.1:p.Pro384Ala
• NP_001354995.1:p.Pro400Ala
• NP_009009.1:p.Pro447Ala
• LRG_385t1:c.1339C>G
• LRG_385:g.52871C>G
• NC_000010.10:g.88476191C>G
• NM_007078.2:c.1339C>G
• c.1339C>G

This HGVS expression did not pass validation

Protein change:

P337A

Links:

dbSNP: rs397517211

NCBI 1000 Genomes Browser:

rs397517211

Molecular consequence:

• NM_001080114.2:c.1009C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171610.2:c.1354C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368064.1:c.1150C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368065.1:c.1150C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368066.1:c.1198C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_007078.3:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1