ClinVar

NM_001174147.2(LMX1B):c.235G>T (p.Glu79Ter)

Gene:

LMX1B:LIM homeobox transcription factor 1 beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.3

Genomic location:

• Chr9: 126615478 (on Assembly GRCh38)
• Chr9: 129377757 (on Assembly GRCh37)

Preferred name:

NM_001174147.2(LMX1B):c.235G>T (p.Glu79Ter)

HGVS:

• NC_000009.12:g.126615478G>T
• NG_017039.1:g.6036G>T
• NM_001174146.2:c.235G>T
• NM_001174147.2:c.235G>TMANE SELECT
• NM_002316.4:c.235G>T
• NP_001167617.1:p.Glu79Ter
• NP_001167618.1:p.Glu79Ter
• NP_002307.2:p.Glu79Ter
• LRG_1014t1:c.235G>T
• LRG_1014t2:c.235G>T
• LRG_1014t3:c.235G>T
• LRG_1014:g.6036G>T
• LRG_1014p1:p.Glu79Ter
• LRG_1014p2:p.Glu79Ter
• LRG_1014p3:p.Glu79Ter
• NC_000009.11:g.129377757G>T

This HGVS expression did not pass validation

Protein change:

E79*

Links:

dbSNP: rs745711468

NCBI 1000 Genomes Browser:

rs745711468

Molecular consequence:

• NM_001174146.2:c.235G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001174147.2:c.235G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_002316.4:c.235G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1