ClinVar

NM_000124.4(ERCC6):c.3778+162C>T

Gene:

ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

• Chr10: 49470020 (on Assembly GRCh38)
• Chr10: 50678066 (on Assembly GRCh37)

Preferred name:

NM_000124.4(ERCC6):c.3778+162C>T

HGVS:

• NC_000010.11:g.49470020G>A
• NG_009442.1:g.74082C>T
• NM_000124.4:c.3778+162C>TMANE SELECT
• NM_001346440.2:c.3778+162C>T
• LRG_465:g.74082C>T
• NC_000010.10:g.50678066G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs4240505

NCBI 1000 Genomes Browser:

rs4240505

Molecular consequence:

• NM_000124.4:c.3778+162C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346440.2:c.3778+162C>T - intron variant - [Sequence Ontology: SO:0001627]