Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs142580756

ERCC6

rs142580756 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ERCC6. Location: chromosome 10, position 50,681,043. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ERCC6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:50681043
Cytoband
10q11.23
HGVS
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)
Allele change
Missense_T914M

Associated conditions / phenotypes

Cerebrooculofacioskeletal syndrome 1|Cockayne syndrome type 2|Age related macular degeneration 5

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.