ClinVar

NM_002024.6(FMR1):c.-129CGG[11]

Genes:

LOC129929053:ATAC-STARR-seq lymphoblastoid silent region 21039 [Gene]
FMR1:fragile X messenger ribonucleoprotein 1 [Gene - OMIM - HGNC]
FRAXA:fragile site, folic acid type, rare, fra(X)(q27.3) A [Gene - HGNC]
LOC107032825:origin of replication in 5' region of FMR1 [Gene]

Variant type:

Microsatellite

Cytogenetic location:

Xq27.3

Genomic location:

• ChrX: 147912049 - 147912050 (on Assembly GRCh38)
• ChrX: 146993567 - 146993568 (on Assembly GRCh37)

Preferred name:

NM_002024.6(FMR1):c.-129CGG[11]

HGVS:

• NC_000023.11:g.147912051CGG[11]
• NC_000023.11:g.147912051_147912053CGG[11]
• NG_007529.2:g.5061CGG[11]
• NG_046340.1:g.1187CGG[11]
• NG_051583.1:g.173CGG[11]
• NM_001185075.2:c.-129CGG[11]
• NM_001185076.2:c.-129CGG[11]
• NM_001185081.2:c.-129CGG[11]
• NM_001185082.2:c.-129CGG[11]
• NM_002024.6:c.-129CGG[11]MANE SELECT
• LRG_762t1:c.-129_-127[11]
• LRG_762:g.5061CGG[11]
• NC_000023.10:g.146993569CGG[11]
• NM_002024.5:c.-129_-127[11]
• NR_033699.2:n.133CGG[11]
• NR_033700.2:n.133CGG[11]

This HGVS expression did not pass validation

Links:

dbSNP: rs193922936

NCBI 1000 Genomes Browser:

rs193922936

Molecular consequence:

• NM_001185075.2:c.-129CGG[11] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001185076.2:c.-129CGG[11] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001185081.2:c.-129CGG[11] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001185082.2:c.-129CGG[11] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002024.6:c.-129CGG[11] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_033699.2:n.133CGG[11] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_033700.2:n.133CGG[11] - non-coding transcript variant - [Sequence Ontology: SO:0001619]