ClinVar

NM_000122.2(ERCC3):c.1449G>T (p.Leu483=)

Gene:

ERCC3:ERCC excision repair 3, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.3

Genomic location:

• Chr2: 127280525 (on Assembly GRCh38)
• Chr2: 128038101 (on Assembly GRCh37)

Preferred name:

NM_000122.2(ERCC3):c.1449G>T (p.Leu483=)

HGVS:

• NC_000002.12:g.127280525C>A
• NG_007454.1:g.18652G>T
• NM_000122.2:c.1449G>TMANE SELECT
• NM_001303416.2:c.1257G>T
• NM_001303418.2:c.1257G>T
• NP_000113.1:p.Leu483=
• NP_001290345.1:p.Leu419=
• NP_001290347.1:p.Leu419=
• LRG_462t1:c.1449G>T
• LRG_462:g.18652G>T
• NC_000002.11:g.128038101C>A
• NM_000122.1:c.1449G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1684874632

NCBI 1000 Genomes Browser:

rs1684874632

Molecular consequence:

• NM_000122.2:c.1449G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001303416.2:c.1257G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001303418.2:c.1257G>T - synonymous variant - [Sequence Ontology: SO:0001819]