ClinVar

NM_001372078.1(REV3L):c.9045C>A (p.Ile3015=)

Gene:

REV3L:REV3 like, DNA directed polymerase zeta catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

• Chr6: 111307568 (on Assembly GRCh38)
• Chr6: 111628771 (on Assembly GRCh37)

Preferred name:

NM_001372078.1(REV3L):c.9045C>A (p.Ile3015=)

HGVS:

• NC_000006.12:g.111307568G>T
• NG_053000.1:g.181148C>A
• NM_001286431.2:c.8811C>A
• NM_001286432.2:c.8811C>A
• NM_001372078.1:c.9045C>AMANE SELECT
• NM_002912.5:c.9045C>A
• NP_001273360.1:p.Ile2937=
• NP_001273361.1:p.Ile2937=
• NP_001359007.1:p.Ile3015=
• NP_002903.3:p.Ile3015=
• NP_002903.3:p.Ile3015=
• NC_000006.11:g.111628771G>T
• NM_002912.4:c.9045C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs17511525

NCBI 1000 Genomes Browser:

rs17511525

Molecular consequence:

• NM_001286431.2:c.8811C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286432.2:c.8811C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001372078.1:c.9045C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002912.5:c.9045C>A - synonymous variant - [Sequence Ontology: SO:0001819]