ClinVar

NM_003640.5(ELP1):c.3346+7G>T

Gene:

ELP1:elongator acetyltransferase complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

• Chr9: 108881698 (on Assembly GRCh38)
• Chr9: 111643978 (on Assembly GRCh37)

Preferred name:

NM_003640.5(ELP1):c.3346+7G>T

HGVS:

• NC_000009.12:g.108881698C>A
• NG_008788.1:g.57631G>T
• NM_001318360.2:c.3004+7G>T
• NM_001330749.2:c.2299+7G>T
• NM_003640.5:c.3346+7G>TMANE SELECT
• LRG_251t1:c.3346+7G>T
• LRG_251:g.57631G>T
• NC_000009.11:g.111643978C>A
• NM_003640.3:c.3346+7G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144631706

NCBI 1000 Genomes Browser:

rs144631706

Molecular consequence:

• NM_001318360.2:c.3004+7G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330749.2:c.2299+7G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003640.5:c.3346+7G>T - intron variant - [Sequence Ontology: SO:0001627]