Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs63751220

GDF6

rs63751220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDF6. Location: chromosome 8, position 97,157,293. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GDF6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:97157293
Cytoband
8q22.1
HGVS
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro)
Allele change
Missense_L289P

Associated conditions / phenotypes

Klippel-Feil syndrome 1, autosomal dominant|Klippel-Feil syndrome 1, autosomal dominant|Leber congenital amaurosis 17|Isolated microphthalmia 4|Microphthalmia, isolated, with coloboma 6

Public references

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