ClinVar

NM_000125.4(ESR1):c.1369+123G>A

Gene:

ESR1:estrogen receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.1

Genomic location:

• Chr6: 152061247 (on Assembly GRCh38)
• Chr6: 152382382 (on Assembly GRCh37)

Preferred name:

NM_000125.4(ESR1):c.1369+123G>A

HGVS:

• NC_000006.12:g.152061247G>A
• NG_008493.2:g.409557G>A
• NM_000125.4:c.1369+123G>AMANE SELECT
• NM_001122740.2:c.1369+123G>A
• NM_001122741.2:c.1369+123G>A
• NM_001122742.2:c.1369+123G>A
• NM_001291230.2:c.1375+123G>A
• NM_001291241.2:c.1366+123G>A
• NM_001328100.2:c.850+123G>A
• NM_001385568.1:c.1369+123G>A
• NM_001385569.1:c.1369+123G>A
• NM_001385570.1:c.1369+123G>A
• NM_001385571.1:c.1369+123G>A
• NM_001385572.1:c.1369+123G>A
• LRG_992:g.409557G>A
• NC_000006.11:g.152382382G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2207396

NCBI 1000 Genomes Browser:

rs2207396

Molecular consequence:

• NM_000125.4:c.1369+123G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001122740.2:c.1369+123G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001122741.2:c.1369+123G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001122742.2:c.1369+123G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291230.2:c.1375+123G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291241.2:c.1366+123G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001328100.2:c.850+123G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385568.1:c.1369+123G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385569.1:c.1369+123G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385570.1:c.1369+123G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385571.1:c.1369+123G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385572.1:c.1369+123G>A - intron variant - [Sequence Ontology: SO:0001627]