ClinVar

NM_002693.3(POLG):c.2724C>T (p.Ala908=)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89321135 (on Assembly GRCh38)
• Chr15: 89864366 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.2724C>T (p.Ala908=)

Other names:

p.A908A:GCC>GCT

HGVS:

• NC_000015.10:g.89321135G>A
• NG_008218.2:g.18661C>T
• NM_001126131.2:c.2724C>T
• NM_002693.3:c.2724C>TMANE SELECT
• NP_001119603.1:p.Ala908=
• NP_002684.1:p.Ala908=
• NP_002684.1:p.Ala908=
• LRG_765t1:c.2724C>T
• LRG_765:g.18661C>T
• LRG_765p1:p.Ala908=
• NC_000015.9:g.89864366G>A
• NM_002693.2:c.2724C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs377390914

NCBI 1000 Genomes Browser:

rs377390914

Molecular consequence:

• NM_001126131.2:c.2724C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002693.3:c.2724C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2