ClinVar

NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

• Chr9: 108894002 (on Assembly GRCh38)
• Chr9: 111656282 (on Assembly GRCh37)

Preferred name:

NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)

HGVS:

• NC_000009.12:g.108894002A>C
• NG_008788.1:g.45327T>G
• NM_001318360.2:c.2459T>G
• NM_001330749.2:c.1754T>G
• NM_003640.5:c.2801T>GMANE SELECT
• NP_001305289.1:p.Phe820Cys
• NP_001317678.1:p.Phe585Cys
• NP_003631.2:p.Phe934Cys
• LRG_251t1:c.2801T>G
• LRG_251:g.45327T>G
• NC_000009.11:g.111656282A>C
• NM_003640.3:c.2801T>G

This HGVS expression did not pass validation

Protein change:

F585C

Links:

dbSNP: rs776891269

NCBI 1000 Genomes Browser:

rs776891269

Molecular consequence:

• NM_001318360.2:c.2459T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330749.2:c.1754T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003640.5:c.2801T>G - missense variant - [Sequence Ontology: SO:0001583]