NM_014363.6(SACS):c.3129A>G (p.Ser1043=) AND SACS-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 21, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003929985.2
Allele description [Variation Report for NM_014363.6(SACS):c.3129A>G (p.Ser1043=)]
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
Condition(s)
- Name:
- SACS-related disorder
- Synonyms:
- SACS-related condition
- Identifiers:
-
bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 isoform X1 [Homo...
bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 isoform X1 [Homo sapiens]gi|1034640948|ref|XP_016864034.1|Protein
-
trnF(ttc) [Amazona leucocephala]
trnF(ttc) [Amazona leucocephala]Gene ID:84357204Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024