ClinVar

NM_000125.4(ESR1):c.1096+15C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.1

Genomic location:

• Chr6: 151944523 (on Assembly GRCh38)
• Chr6: 152265658 (on Assembly GRCh37)

Preferred name:

NM_000125.4(ESR1):c.1096+15C>T

HGVS:

• NC_000006.12:g.151944523C>T
• NG_008493.2:g.292833C>T
• NM_000125.4:c.1096+15C>TMANE SELECT
• NM_001122740.2:c.1096+15C>T
• NM_001122741.2:c.1096+15C>T
• NM_001122742.2:c.1096+15C>T
• NM_001291230.2:c.1102+15C>T
• NM_001291241.2:c.1093+15C>T
• NM_001328100.2:c.577+15C>T
• NM_001385568.1:c.1096+15C>T
• NM_001385569.1:c.1096+15C>T
• NM_001385570.1:c.1096+15C>T
• NM_001385571.1:c.1096+15C>T
• NM_001385572.1:c.1096+15C>T
• LRG_992:g.292833C>T
• NC_000006.11:g.152265658C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs35630684

NCBI 1000 Genomes Browser:

rs35630684

Molecular consequence:

• NM_000125.4:c.1096+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001122740.2:c.1096+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001122741.2:c.1096+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001122742.2:c.1096+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291230.2:c.1102+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291241.2:c.1093+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001328100.2:c.577+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385568.1:c.1096+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385569.1:c.1096+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385570.1:c.1096+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385571.1:c.1096+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385572.1:c.1096+15C>T - intron variant - [Sequence Ontology: SO:0001627]