ClinVar

NM_000082.4(ERCC8):c.481+1G>C

Gene:

ERCC8:ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q12.1

Genomic location:

• Chr5: 60904791 (on Assembly GRCh38)
• Chr5: 60200618 (on Assembly GRCh37)

Preferred name:

NM_000082.4(ERCC8):c.481+1G>C

HGVS:

• NC_000005.10:g.60904791C>G
• NG_009289.1:g.45288G>C
• NM_000082.4:c.481+1G>CMANE SELECT
• NM_001007233.3:c.307+1G>C
• NM_001007234.3:c.481+1G>C
• NM_001290285.2:c.23-1075G>C
• LRG_466:g.45288G>C
• NC_000005.9:g.60200618C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1580007152

NCBI 1000 Genomes Browser:

rs1580007152

Molecular consequence:

• NM_001290285.2:c.23-1075G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000082.4:c.481+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001007233.3:c.307+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001007234.3:c.481+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1