ClinVar

NM_002693.3(POLG):c.3294T>C (p.Asn1098=)

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: 89318729 (on Assembly GRCh38)
• Chr15: 89861960 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.3294T>C (p.Asn1098=)

Other names:

p.N1098N:AAT>AAC

HGVS:

• NC_000015.10:g.89318729A>G
• NG_008218.2:g.21067T>C
• NG_011736.1:g.79767A>G
• NM_001126131.2:c.3294T>C
• NM_002693.3:c.3294T>CMANE SELECT
• NP_001119603.1:p.Asn1098=
• NP_002684.1:p.Asn1098=
• NP_002684.1:p.Asn1098=
• LRG_765t1:c.3294T>C
• LRG_500:g.79767A>G
• LRG_765:g.21067T>C
• LRG_765p1:p.Asn1098=
• NC_000015.9:g.89861960A>G
• NC_000015.9:g.89861960A>G
• NM_002693.2(POLG):c.3294T>C
• NM_002693.2:c.3294T>C
• p.Asn1098=

This HGVS expression did not pass validation

Links:

dbSNP: rs374224714

NCBI 1000 Genomes Browser:

rs374224714

Molecular consequence:

• NM_001126131.2:c.3294T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002693.3:c.3294T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

7