ClinVar

NM_002024.6(FMR1):c.990+14C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq27.3

Genomic location:

• ChrX: 147936627 (on Assembly GRCh38)
• ChrX: 147018146 (on Assembly GRCh37)

Preferred name:

NM_002024.6(FMR1):c.990+14C>T

HGVS:

• NC_000023.11:g.147936627C>T
• NG_007529.2:g.29637C>T
• NM_001185075.2:c.990+14C>T
• NM_001185076.2:c.990+14C>T
• NM_001185081.2:c.990+14C>T
• NM_001185082.2:c.990+14C>T
• NM_002024.6:c.990+14C>TMANE SELECT
• LRG_762t1:c.990+14C>T
• LRG_762:g.29637C>T
• NC_000023.10:g.147018146C>T
• NM_002024.5:c.990+14C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs25714

NCBI 1000 Genomes Browser:

rs25714

Molecular consequence:

• NM_001185075.2:c.990+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001185076.2:c.990+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001185081.2:c.990+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001185082.2:c.990+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002024.6:c.990+14C>T - intron variant - [Sequence Ontology: SO:0001627]