NM_170601.5(SIAE):c.190G>A (p.Gly64Ser) AND not provided
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000960931.7
Allele description [Variation Report for NM_170601.5(SIAE):c.190G>A (p.Gly64Ser)]
NM_170601.5(SIAE):c.190G>A (p.Gly64Ser)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Niemann-Pick disease type E
Niemann-Pick disease type EMedGen
-
C0268248[conceptid] (1)
MedGen
-
PREDICTED: Columba livia zinc finger protein 318 (ZNF318), transcript variant X1...
PREDICTED: Columba livia zinc finger protein 318 (ZNF318), transcript variant X1, misc_RNAgi|2728234755|ref|XR_010471530.1|Nucleotide
-
nucleotide exchange factor SIL1 [Serinus canaria]
nucleotide exchange factor SIL1 [Serinus canaria]gi|2312811938|ref|XP_018779531.2|Protein
-
PREDICTED: Terrapene carolina triunguis transport and golgi organization 2 homol...
PREDICTED: Terrapene carolina triunguis transport and golgi organization 2 homolog (TANGO2), transcript variant X2, mRNAgi|1487164282|ref|XM_024197099.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024