ClinVar

NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

• Chr10: 86716630 (on Assembly GRCh38)
• Chr10: 88476387 (on Assembly GRCh37)

Preferred name:

NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)

Other names:

p.Q512P:CAG>CCG

HGVS:

• NC_000010.11:g.86716630A>C
• NG_008876.1:g.53067A>C
• NM_001080114.2:c.1205A>C
• NM_001080116.1:c.*17256A>C
• NM_001171610.2:c.1550A>C
• NM_001368064.1:c.1346A>C
• NM_001368065.1:c.1346A>C
• NM_001368066.1:c.1394A>C
• NM_007078.3:c.1535A>CMANE SELECT
• NP_001073583.1:p.Gln402Pro
• NP_001165081.1:p.Gln517Pro
• NP_001354993.1:p.Gln449Pro
• NP_001354994.1:p.Gln449Pro
• NP_001354995.1:p.Gln465Pro
• NP_009009.1:p.Gln512Pro
• NP_009009.1:p.Gln512Pro
• LRG_385t1:c.1535A>C
• LRG_385t2:c.*17256A>C
• LRG_385:g.53067A>C
• LRG_385p1:p.Gln512Pro
• NC_000010.10:g.88476387A>C
• NM_001080114.1:c.1205A>C
• NM_001080115.1:c.*17256A>C
• NM_001171610.1:c.1550A>C
• NM_007078.2:c.1535A>C
• c.1535A>C

This HGVS expression did not pass validation

Protein change:

Q402P

Links:

dbSNP: rs138951890

NCBI 1000 Genomes Browser:

rs138951890

Molecular consequence:

• NM_001080116.1:c.*17256A>C - genic downstream transcript variant - [Sequence Ontology: SO:0002152]
• NM_001080114.2:c.1205A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171610.2:c.1550A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368064.1:c.1346A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368065.1:c.1346A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368066.1:c.1394A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007078.3:c.1535A>C - missense variant - [Sequence Ontology: SO:0001583]