ClinVar

NM_002024.6(FMR1):c.602G>C (p.Arg201Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq27.3

Genomic location:

• ChrX: 147930216 (on Assembly GRCh38)
• ChrX: 147011735 (on Assembly GRCh37)

Preferred name:

NM_002024.6(FMR1):c.602G>C (p.Arg201Thr)

HGVS:

• NC_000023.11:g.147930216G>C
• NG_007529.2:g.23226G>C
• NM_001185075.2:c.602G>C
• NM_001185076.2:c.602G>C
• NM_001185081.2:c.602G>C
• NM_001185082.2:c.602G>C
• NM_002024.6:c.602G>CMANE SELECT
• NP_001172004.1:p.Arg201Thr
• NP_001172005.1:p.Arg201Thr
• NP_001172010.1:p.Arg201Thr
• NP_001172011.1:p.Arg201Thr
• NP_002015.1:p.Arg201Thr
• NP_002015.1:p.Arg201Thr
• LRG_762t1:c.602G>C
• LRG_762:g.23226G>C
• LRG_762p1:p.Arg201Thr
• NC_000023.10:g.147011735G>C
• NM_002024.5:c.602G>C
• NR_033699.2:n.863G>C
• NR_033700.2:n.863G>C

This HGVS expression did not pass validation

Protein change:

R201T

Links:

dbSNP: rs1557178460

NCBI 1000 Genomes Browser:

rs1557178460

Molecular consequence:

• NM_001185075.2:c.602G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185076.2:c.602G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185081.2:c.602G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185082.2:c.602G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002024.6:c.602G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_033699.2:n.863G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_033700.2:n.863G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1