ClinVar

NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu)

Gene:

RAX2:retina and anterior neural fold homeobox 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 3771588 (on Assembly GRCh38)
• Chr19: 3771586 (on Assembly GRCh37)

Preferred name:

NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu)

Other names:

P52R

HGVS:

• NC_000019.10:g.3771588G>A
• NG_011565.1:g.5634C>T
• NM_001319074.4:c.155C>TMANE SELECT
• NM_032753.4:c.155C>T
• NP_001306003.2:p.Pro52Leu
• NP_116142.1:p.Pro52Leu
• NP_116142.1:p.Pro52Leu
• LRG_1200t1:c.155C>T
• LRG_1200t2:c.155C>T
• LRG_1200:g.5634C>T
• LRG_1200p1:p.Pro52Leu
• LRG_1200p2:p.Pro52Leu
• NC_000019.9:g.3771586G>A
• NM_032753.3:c.155C>T

This HGVS expression did not pass validation

Protein change:

P52L; PRO52ARG

Links:

OMIM: 610362.0008; dbSNP: rs76076446

NCBI 1000 Genomes Browser:

rs76076446

Molecular consequence:

• NM_001319074.4:c.155C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032753.4:c.155C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1