ClinVar

NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)

Genes:

POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89330092 (on Assembly GRCh38)
• Chr15: 89873323 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)

HGVS:

• NC_000015.10:g.89330092A>C
• NG_008218.2:g.9704T>G
• NM_001126131.2:c.844T>G
• NM_002693.3:c.844T>GMANE SELECT
• NP_001119603.1:p.Tyr282Asp
• NP_002684.1:p.Tyr282Asp
• NP_002684.1:p.Tyr282Asp
• LRG_765t1:c.844T>G
• LRG_765:g.9704T>G
• LRG_765p1:p.Tyr282Asp
• NC_000015.9:g.89873323A>C
• NM_002693.2:c.844T>G

This HGVS expression did not pass validation

Protein change:

Y282D

Links:

dbSNP: rs1290567099

NCBI 1000 Genomes Browser:

rs1290567099

Molecular consequence:

• NM_001126131.2:c.844T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.844T>G - missense variant - [Sequence Ontology: SO:0001583]