NM_000243.3(MEFV):c.436C>T (p.Gln146Ter) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 18, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000781527.1
Allele description [Variation Report for NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)]
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
RecName: Full=MHC class II transactivator; Short=CIITA
RecName: Full=MHC class II transactivator; Short=CIITAgi|416732|sp|P33076.1|C2TA_HUMANProtein
-
breast cancer anti-estrogen resistance protein 1 isoform X1 [Aythya fuligula]
breast cancer anti-estrogen resistance protein 1 isoform X1 [Aythya fuligula]gi|1802832020|ref|XP_032051712.1|Protein
-
Homo sapiens clone DNA64883 implantation-associated protein (UNQ628) mRNA, compl...
Homo sapiens clone DNA64883 implantation-associated protein (UNQ628) mRNA, complete cdsgi|37182503|gb|AY358691.1|Nucleotide
-
PREDICTED: Homo sapiens oxysterol binding protein like 6 (OSBPL6), transcript va...
PREDICTED: Homo sapiens oxysterol binding protein like 6 (OSBPL6), transcript variant X44, mRNAgi|2462569831|ref|XM_054340403.1|Nucleotide
-
aa13h11.s1 Soares_NhHMPu_S1 Homo sapiens cDNA clone IMAGE:813189 3', mRNA sequen...
aa13h11.s1 Soares_NhHMPu_S1 Homo sapiens cDNA clone IMAGE:813189 3', mRNA sequencegi|2179535|gnl|dbEST|1101314|gb|AA4 .1|Nucleotide
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Last Updated: Sep 29, 2024