Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs147219158

ETFDH

rs147219158 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFDH. Location: chromosome 4, position 159,606,337. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ETFDHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:159606337
Cytoband
4q32.1
HGVS
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)
Allele change
Missense_G144D

Associated conditions / phenotypes

Multiple acyl-CoA dehydrogenase deficiency|Hypertrophic cardiomyopathy

Public references

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