ClinVar

NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)

Gene:

HOXB13:homeobox B13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.32

Genomic location:

• Chr17: 48728343 (on Assembly GRCh38)
• Chr17: 46805705 (on Assembly GRCh37)

Preferred name:

NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)

Other names:

p.G84E:GGA>GAA

HGVS:

• NC_000017.11:g.48728343C>T
• NG_033789.1:g.5407G>A
• NM_006361.6:c.251G>AMANE SELECT
• NP_006352.2:p.Gly84Glu
• NP_006352.2:p.Gly84Glu
• LRG_771t1:c.251G>A
• LRG_771:g.5407G>A
• LRG_771p1:p.Gly84Glu
• NC_000017.10:g.46805705C>T
• NM_006361.5:c.251G>A
• Q92826:p.Gly84Glu

This HGVS expression did not pass validation

Protein change:

G84E; GLY84GLU

Links:

UniProtKB: Q92826#VAR_071866; OMIM: 604607.0001; dbSNP: rs138213197

NCBI 1000 Genomes Browser:

rs138213197

Molecular consequence:

• NM_006361.6:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]