NM_000388.4(CASR):c.701A>T (p.Asp234Val) AND Nephrolithiasis/nephrocalcinosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004245073.1
Allele description [Variation Report for NM_000388.4(CASR):c.701A>T (p.Asp234Val)]
NM_000388.4(CASR):c.701A>T (p.Asp234Val)
Condition(s)
- Name:
- Nephrolithiasis/nephrocalcinosis
- Identifiers:
- MedGen: CN580796
-
RecName: Full=Spindle and kinetochore-associated protein 3
RecName: Full=Spindle and kinetochore-associated protein 3gi|73620123|sp|Q8IX90.2|SKA3_HUMANProtein
-
RecName: Full=Cysteine-rich secretory protein 2; Short=CRISP-2; AltName: Full=Ca...
RecName: Full=Cysteine-rich secretory protein 2; Short=CRISP-2; AltName: Full=Cancer/testis antigen 36; Short=CT36; AltName: Full=Testis-specific protein TPX-1; Flags: Precursorgi|136111|sp|P16562.1|CRIS2_HUMANProtein
-
RecName: Full=Endogenous retrovirus group 3 member 1 Env polyprotein; AltName: F...
RecName: Full=Endogenous retrovirus group 3 member 1 Env polyprotein; AltName: Full=ERV-3 envelope protein; Short=ERV3 envelope protein; AltName: Full=ERV3-1 envelope protein; AltName: Full=Envelope polyprotein; AltName: Full=HERV-R envelope protein; Short=ERV-R envelope protein; AltName: Full=HERV-R_7q21.2 provirus ancestral Env polyprotein; Contains: RecName: Full=Surface protein; Short=SU; Contains: RecName: Full=Transmembrane protein; Short=TM; Flags: Precursorgi|44887883|sp|Q14264.2|ENR1_HUMANProtein
-
LOC133417587 [Phycodurus eques]
LOC133417587 [Phycodurus eques]Gene ID:133417587Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024