ClinVar

NM_002693.3(POLG):c.3323A>G (p.Tyr1108Cys)

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: 89318700 (on Assembly GRCh38)
• Chr15: 89861931 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.3323A>G (p.Tyr1108Cys)

HGVS:

• NC_000015.10:g.89318700T>C
• NG_008218.2:g.21096A>G
• NG_011736.1:g.79738T>C
• NM_001126131.2:c.3323A>G
• NM_002693.3:c.3323A>GMANE SELECT
• NP_001119603.1:p.Tyr1108Cys
• NP_002684.1:p.Tyr1108Cys
• NP_002684.1:p.Tyr1108Cys
• LRG_765t1:c.3323A>G
• LRG_500:g.79738T>C
• LRG_765:g.21096A>G
• LRG_765p1:p.Tyr1108Cys
• NC_000015.9:g.89861931T>C
• NM_002693.2:c.3323A>G

This HGVS expression did not pass validation

Protein change:

Y1108C

Links:

dbSNP: rs765949668

NCBI 1000 Genomes Browser:

rs765949668

Molecular consequence:

• NM_001126131.2:c.3323A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.3323A>G - missense variant - [Sequence Ontology: SO:0001583]