ClinVar

NM_002693.3(POLG):c.868C>T (p.Arg290Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89329098 (on Assembly GRCh38)
• Chr15: 89872329 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.868C>T (p.Arg290Cys)

HGVS:

• NC_000015.10:g.89329098G>A
• NG_008218.2:g.10698C>T
• NM_001126131.2:c.868C>T
• NM_002693.3:c.868C>TMANE SELECT
• NP_001119603.1:p.Arg290Cys
• NP_002684.1:p.Arg290Cys
• LRG_765t1:c.868C>T
• LRG_765:g.10698C>T
• NC_000015.9:g.89872329G>A
• NC_000015.9:g.89872329G>A
• NM_002693.2:c.868C>T

This HGVS expression did not pass validation

Protein change:

R290C

Links:

dbSNP: rs753416225

NCBI 1000 Genomes Browser:

rs753416225

Molecular consequence:

• NM_001126131.2:c.868C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.868C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1