ClinVar

NM_002693.3(POLG):c.3708G>T (p.Gln1236His)

Genes:

POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
FANCI:FA complementation group I [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89316763 (on Assembly GRCh38)
• Chr15: 89859994 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.3708G>T (p.Gln1236His)

HGVS:

• NC_000015.10:g.89316763C>A
• NG_008218.2:g.23033G>T
• NG_011736.1:g.77801C>A
• NM_001113378.2:c.*304C>AMANE SELECT
• NM_001126131.2:c.3708G>T
• NM_001376910.1:c.*304C>A
• NM_001376911.1:c.*304C>A
• NM_002693.3:c.3708G>TMANE SELECT
• NM_018193.3:c.*304C>A
• NP_001119603.1:p.Gln1236His
• NP_002684.1:p.Gln1236His
• NP_002684.1:p.Gln1236His
• LRG_500t1:c.*304C>A
• LRG_765t1:c.3708G>T
• LRG_500:g.77801C>A
• LRG_765:g.23033G>T
• LRG_765p1:p.Gln1236His
• NC_000015.9:g.89859994C>A
• NM_001113378.1:c.*304C>A
• NM_002693.2:c.3708G>T
• P54098:p.Gln1236His

This HGVS expression did not pass validation

Protein change:

Q1236H

Links:

UniProtKB: P54098#VAR_014911; dbSNP: rs3087374

NCBI 1000 Genomes Browser:

rs3087374

Molecular consequence:

• NM_001113378.2:c.*304C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001376910.1:c.*304C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001376911.1:c.*304C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_018193.3:c.*304C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001126131.2:c.3708G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.3708G>T - missense variant - [Sequence Ontology: SO:0001583]