ClinVar

NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)

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: 89323423 (on Assembly GRCh38)
• Chr15: 89866654 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)

Other names:

p.F749S:TTT>TCT

HGVS:

• NC_000015.10:g.89323423A>G
• NG_008218.2:g.16373T>C
• NM_001126131.2:c.2246T>C
• NM_002693.3:c.2246T>CMANE SELECT
• NP_001119603.1:p.Phe749Ser
• NP_002684.1:p.Phe749Ser
• NP_002684.1:p.Phe749Ser
• LRG_765t1:c.2246T>C
• LRG_765:g.16373T>C
• LRG_765p1:p.Phe749Ser
• NC_000015.9:g.89866654A>G
• NM_002693.2:c.2246T>C

This HGVS expression did not pass validation

Protein change:

F749S

Links:

dbSNP: rs202037973

NCBI 1000 Genomes Browser:

rs202037973

Molecular consequence:

• NM_001126131.2:c.2246T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.2246T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1