ClinVar

NM_001174147.2(LMX1B):c.139+295G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.3

Genomic location:

• Chr9: 126614883 (on Assembly GRCh38)
• Chr9: 129377162 (on Assembly GRCh37)

Preferred name:

NM_001174147.2(LMX1B):c.139+295G>A

HGVS:

• NC_000009.12:g.126614883G>A
• NG_017039.1:g.5441G>A
• NM_001174146.2:c.139+295G>A
• NM_001174147.2:c.139+295G>AMANE SELECT
• NM_002316.4:c.139+295G>A
• LRG_1014t1:c.139+295G>A
• LRG_1014t2:c.139+295G>A
• LRG_1014t3:c.139+295G>A
• LRG_1014:g.5441G>A
• NC_000009.11:g.129377162G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs75894916

NCBI 1000 Genomes Browser:

rs75894916

Molecular consequence:

• NM_001174146.2:c.139+295G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001174147.2:c.139+295G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002316.4:c.139+295G>A - intron variant - [Sequence Ontology: SO:0001627]