ClinVar

NM_130398.4(EXO1):c.325G>A (p.Glu109Lys)

Gene:

EXO1:exonuclease 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 241853401 (on Assembly GRCh38)
• Chr1: 242016703 (on Assembly GRCh37)

Preferred name:

NM_130398.4(EXO1):c.325G>A (p.Glu109Lys)

HGVS:

• NC_000001.11:g.241853401G>A
• NG_029100.2:g.10211G>A
• NM_001319224.2:c.325G>A
• NM_003686.4:c.325G>A
• NM_006027.4:c.325G>A
• NM_130398.4:c.325G>AMANE SELECT
• NP_001306153.1:p.Glu109Lys
• NP_003677.4:p.Glu109Lys
• NP_006018.4:p.Glu109Lys
• NP_569082.2:p.Glu109Lys
• NC_000001.10:g.242016703G>A

This HGVS expression did not pass validation

Protein change:

E109K

Links:

dbSNP: rs143546023

NCBI 1000 Genomes Browser:

rs143546023

Molecular consequence:

• NM_001319224.2:c.325G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003686.4:c.325G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006027.4:c.325G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_130398.4:c.325G>A - missense variant - [Sequence Ontology: SO:0001583]