ClinVar

NM_002693.3(POLG):c.3451C>T (p.Leu1151=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89318572 (on Assembly GRCh38)
• Chr15: 89861803 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.3451C>T (p.Leu1151=)

Other names:

NM_002693.2(POLG):c.3451C>T; p.Leu1151=

HGVS:

• NC_000015.10:g.89318572G>A
• NG_008218.2:g.21224C>T
• NG_011736.1:g.79610G>A
• NM_001126131.2:c.3451C>T
• NM_002693.3:c.3451C>TMANE SELECT
• NP_001119603.1:p.Leu1151=
• NP_002684.1:p.Leu1151=
• NP_002684.1:p.Leu1151=
• LRG_765t1:c.3451C>T
• LRG_500:g.79610G>A
• LRG_765:g.21224C>T
• LRG_765p1:p.Leu1151=
• NC_000015.9:g.89861803G>A
• NM_002693.2:c.3451C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs769193603

NCBI 1000 Genomes Browser:

rs769193603

Molecular consequence:

• NM_001126131.2:c.3451C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002693.3:c.3451C>T - synonymous variant - [Sequence Ontology: SO:0001819]