NM_000128.4(F11):c.1853T>G (p.Ile618Ser) AND F11-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003905028.2
Allele description [Variation Report for NM_000128.4(F11):c.1853T>G (p.Ile618Ser)]
NM_000128.4(F11):c.1853T>G (p.Ile618Ser)
Condition(s)
- Name:
- F11-related disorder
- Synonyms:
- F11-related condition
- Identifiers:
-
component of cytosolic 80S ribosome and 60S large subunit [Volvox carteri f. nag...
component of cytosolic 80S ribosome and 60S large subunit [Volvox carteri f. nagariensis]gi|302833677|ref|XP_002948402.1|Protein
-
PREDICTED: Homo sapiens erythrocyte membrane protein band 4.1 like 3 (EPB41L3), ...
PREDICTED: Homo sapiens erythrocyte membrane protein band 4.1 like 3 (EPB41L3), transcript variant X12, mRNAgi|2217316342|ref|XM_047437369.1|Nucleotide
-
RecName: Full=Sodium/iodide cotransporter; Short=Na(+)/I(-) cotransporter; AltNa...
RecName: Full=Sodium/iodide cotransporter; Short=Na(+)/I(-) cotransporter; AltName: Full=Natrium iodide transporter; AltName: Full=Sodium-iodide symporter; Short=Na(+)/I(-) symporter; AltName: Full=Solute carrier family 5 member 5gi|12643359|sp|Q92911.1|SC5A5_HUMANProtein
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Last Updated: Oct 8, 2024