ClinVar

NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)

Genes:

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

Variant type:

Microsatellite

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89333597 - 89333602 (on Assembly GRCh38)
• Chr15: 89876828 - 89876833 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)

HGVS:

• NC_000015.10:g.89333597TGC[9]
• NG_008218.2:g.6167GCA[9]
• NM_001126131.2:c.126GCA[9]
• NM_002693.3:c.126GCA[9]MANE SELECT
• NP_001119603.1:p.Gln54_Gln55del
• NP_002684.1:p.Gln54_Gln55del
• LRG_765t1:c.153_158del
• LRG_765:g.6167GCA[9]
• NC_000015.9:g.89876828TGC[9]
• NC_000015.9:g.89876828_89876833del
• NM_002693.2:c.153_158del
• NM_002693.2:c.153_158delGCAGCA
• NM_002693.3:c.153_158delMANE SELECT
• p.Q54_Q55del

This HGVS expression did not pass validation

Links:

dbSNP: rs41550117

NCBI 1000 Genomes Browser:

rs41550117

Molecular consequence:

• NM_001126131.2:c.126GCA[9] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_002693.3:c.126GCA[9] - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

24