ClinVar

NM_000122.2(ERCC3):c.224C>T (p.Pro75Leu)

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: 127293523 (on Assembly GRCh38)
• Chr2: 128051099 (on Assembly GRCh37)

Preferred name:

NM_000122.2(ERCC3):c.224C>T (p.Pro75Leu)

HGVS:

• NC_000002.12:g.127293523G>A
• NG_007454.1:g.5654C>T
• NM_000122.2:c.224C>TMANE SELECT
• NM_001303416.2:c.32C>T
• NM_001303418.2:c.32C>T
• NP_000113.1:p.Pro75Leu
• NP_001290345.1:p.Pro11Leu
• NP_001290347.1:p.Pro11Leu
• LRG_462t1:c.224C>T
• LRG_462:g.5654C>T
• NC_000002.11:g.128051099G>A
• NM_000122.1:c.224C>T

This HGVS expression did not pass validation

Protein change:

P11L

Links:

dbSNP: rs553774995

NCBI 1000 Genomes Browser:

rs553774995

Molecular consequence:

• NM_000122.2:c.224C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303416.2:c.32C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303418.2:c.32C>T - missense variant - [Sequence Ontology: SO:0001583]