NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser) AND Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001133115.4
Allele description [Variation Report for NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser)]
NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser)
Condition(s)
- Name:
- Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Synonyms:
- DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A; INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS; IRAN, TYPE A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012520; MedGen: C0342278; Orphanet: 2297; OMIM: 610549
-
ribulose 1,5-bisphosphate carboxylase small subunit, partial [cyanobacterium BEC...
ribulose 1,5-bisphosphate carboxylase small subunit, partial [cyanobacterium BECID34]gi|57335300|emb|CAH04105.1|Protein
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Extrahepatic CholangiocarcinomaMedGen
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C3805278[conceptid] (1)
MedGen
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V-type proton ATPase 116 kDa subunit a 3 isoform X2 [Homo sapiens]
V-type proton ATPase 116 kDa subunit a 3 isoform X2 [Homo sapiens]gi|2462522462|ref|XP_054223419.1|Protein
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RecName: Full=V-type proton ATPase 116 kDa subunit a 3; Short=V-ATPase 116 kDa s...
RecName: Full=V-type proton ATPase 116 kDa subunit a 3; Short=V-ATPase 116 kDa subunit a 3; AltName: Full=Osteoclastic proton pump 116 kDa subunit; Short=OC-116 kDa; Short=OC116; AltName: Full=T-cell immune regulator 1; AltName: Full=T-cell immune response cDNA7 protein; Short=TIRC7; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3gi|223634720|sp|Q13488.3|VPP3_HUMANProtein
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Last Updated: Apr 9, 2023