ClinVar

NM_001368067.1(LDB3):c.780C>T (p.Asn260=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

• Chr10: 86699302 (on Assembly GRCh38)
• Chr10: 88459059 (on Assembly GRCh37)

Preferred name:

NM_001368067.1(LDB3):c.780C>T (p.Asn260=)

Other names:

p.N375N:AAC>AAT

HGVS:

• NC_000010.11:g.86699302C>T
• NG_008876.1:g.35739C>T
• NM_001080114.2:c.755+6731C>T
• NM_001080115.2:c.921C>T
• NM_001080116.1:c.780C>T
• NM_001171610.2:c.1100+6731C>T
• NM_001171611.2:c.1125C>T
• NM_001368063.1:c.921C>T
• NM_001368064.1:c.896+6731C>T
• NM_001368065.1:c.896+6731C>T
• NM_001368066.1:c.755+6731C>T
• NM_001368067.1:c.780C>T
• NM_001368068.1:c.780C>T
• NM_007078.3:c.896+6731C>TMANE SELECT
• NP_001073584.1:p.Asn307=
• NP_001073585.1:p.Asn260=
• NP_001165082.1:p.Asn375=
• NP_001354992.1:p.Asn307=
• NP_001354996.1:p.Asn260=
• NP_001354997.1:p.Asn260=
• LRG_385t1:c.896+6731C>T
• LRG_385t2:c.780C>T
• LRG_385:g.35739C>T
• LRG_385p2:p.Asn260=
• NC_000010.10:g.88459059C>T
• NM_001171611.1:c.1125C>T
• NM_007078.2:c.896+6731C>T
• NM_007078.3:c.896+6731C>T
• p.Asn260Asn

This HGVS expression did not pass validation

Links:

dbSNP: rs372789789

NCBI 1000 Genomes Browser:

rs372789789

Molecular consequence:

• NM_001080114.2:c.755+6731C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001171610.2:c.1100+6731C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368064.1:c.896+6731C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368065.1:c.896+6731C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368066.1:c.755+6731C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007078.3:c.896+6731C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001080115.2:c.921C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001080116.1:c.780C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001171611.2:c.1125C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368063.1:c.921C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368067.1:c.780C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368068.1:c.780C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2