ClinVar

NM_001174147.2(LMX1B):c.99C>T (p.His33=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.3

Genomic location:

• Chr9: 126614548 (on Assembly GRCh38)
• Chr9: 129376827 (on Assembly GRCh37)

Preferred name:

NM_001174147.2(LMX1B):c.99C>T (p.His33=)

HGVS:

• NC_000009.12:g.126614548C>T
• NG_017039.1:g.5106C>T
• NM_001174146.2:c.99C>T
• NM_001174147.2:c.99C>TMANE SELECT
• NM_002316.4:c.99C>T
• NP_001167617.1:p.His33=
• NP_001167618.1:p.His33=
• NP_002307.2:p.His33=
• LRG_1014t1:c.99C>T
• LRG_1014t2:c.99C>T
• LRG_1014t3:c.99C>T
• LRG_1014:g.5106C>T
• LRG_1014p1:p.His33=
• LRG_1014p2:p.His33=
• LRG_1014p3:p.His33=
• NC_000009.11:g.129376827C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1835262985

NCBI 1000 Genomes Browser:

rs1835262985

Molecular consequence:

• NM_001174146.2:c.99C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001174147.2:c.99C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002316.4:c.99C>T - synonymous variant - [Sequence Ontology: SO:0001819]