ClinVar

NM_002693.3(POLG):c.1837C>T (p.His613Tyr)

Gene:

POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89325562 (on Assembly GRCh38)
• Chr15: 89868793 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.1837C>T (p.His613Tyr)

Other names:

p.H613Y:CAC>TAC

HGVS:

• NC_000015.10:g.89325562G>A
• NG_008218.2:g.14234C>T
• NM_001126131.2:c.1837C>T
• NM_002693.3:c.1837C>TMANE SELECT
• NP_001119603.1:p.His613Tyr
• NP_002684.1:p.His613Tyr
• NP_002684.1:p.His613Tyr
• LRG_765t1:c.1837C>T
• LRG_765:g.14234C>T
• LRG_765p1:p.His613Tyr
• NC_000015.9:g.89868793G>A
• NM_002693.2:c.1837C>T

This HGVS expression did not pass validation

Protein change:

H613Y

Links:

dbSNP: rs147407423

NCBI 1000 Genomes Browser:

rs147407423

Molecular consequence:

• NM_001126131.2:c.1837C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.1837C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1