ClinVar

NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)

Gene:

FMR1:fragile X messenger ribonucleoprotein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq27.3

Genomic location:

• ChrX: 147929961 (on Assembly GRCh38)
• ChrX: 147011480 (on Assembly GRCh37)

Preferred name:

NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)

HGVS:

• NC_000023.11:g.147929961G>T
• NG_007529.2:g.22971G>T
• NM_001185075.2:c.433G>T
• NM_001185076.2:c.433G>T
• NM_001185081.2:c.433G>T
• NM_001185082.2:c.433G>T
• NM_002024.6:c.433G>TMANE SELECT
• NP_001172004.1:p.Ala145Ser
• NP_001172005.1:p.Ala145Ser
• NP_001172010.1:p.Ala145Ser
• NP_001172011.1:p.Ala145Ser
• NP_002015.1:p.Ala145Ser
• NP_002015.1:p.Ala145Ser
• LRG_762t1:c.433G>T
• LRG_762:g.22971G>T
• LRG_762p1:p.Ala145Ser
• NC_000023.10:g.147011480G>T
• NM_002024.5:c.433G>T
• NR_033699.2:n.694G>T
• NR_033700.2:n.694G>T
• Q06787:p.Ala145Ser

This HGVS expression did not pass validation

Protein change:

A145S

Links:

UniProtKB: Q06787#VAR_029278; dbSNP: rs29281

NCBI 1000 Genomes Browser:

rs29281

Molecular consequence:

• NM_001185075.2:c.433G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185076.2:c.433G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185081.2:c.433G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185082.2:c.433G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002024.6:c.433G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_033699.2:n.694G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_033700.2:n.694G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

6