NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)Rat Genome Database
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Variant : CV19239 (NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)) Homo sapiens

Symbol: CV19239
Name: NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
RGD ID: 8596334
Condition: Charcot-Marie-Tooth disease [RCV000789780]|Charcot-Marie-Tooth disease type 2K [RCV000033147]|Charcot-Marie-Tooth disease, recessive intermediate A [RCV000004420]|Charcot-Marie-Tooth disease, type 4A [RCV000034153]|Elevated serum creatine phosphokinase [RCV000414821]|GDAP1-Related Disorders [RCV000779562]|not provided [RCV000439841]
Clinical Significance: pathogenic|likely pathogenic|uncertain significance
Last Evaluated: 10/11/2018
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: GDAP1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|missense|missense variant|non-coding transcript variant
Evidence: clinical testing|curation|literature only
HGVS Name(s): NC_000008.11:g.74364005C>T
NC_000008.10:g.75276240C>T
NP_061845.2:p.Leu239Phe
NG_008787.3:g.47876C>T
LRG_244t1:c.715C>T
LRG_244:g.47876C>T
LRG_244p1:p.Leu239Phe
NM_001362931.2:c.694+952C>T
NM_018972.4:c.715C>T
NM_018972.2:c.715C>T
NP_001349858.1:p.Leu130Phe
NP_001349861.1:p.Leu130Phe
NP_001035808.1:p.Leu171Phe
NP_001349859.1:p.Leu181Phe
NM_001362929.1:c.388C>T
NM_001362932.1:c.388C>T
NM_001040875.3:c.511C>T
NM_001362930.1:c.541C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38874,364,005 - 74,364,005CLINVAR
GRCh37875,276,240 - 75,276,240CLINVAR
Cytogenetic Map88q21.11CLINVAR
Trait Synonyms: CAV3-Related Isolated HyperCKemia; Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K; Charcot-Marie-Tooth disease, axonal, Type 2K; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth Neuropathy Type 4A; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K; CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A; Elevated alkaline phosphatase; Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; GDAP1-Related Intermediate Charcot-Marie-Tooth Neuropahty; GDAP1-Related Intermediate Charcot-Marie-Tooth Neuropathy; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; High serum creatine kinase; HYPERCKEMIA, IDIOPATHIC; Hyperphosphatasia; Increased alkaline phosphatase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum alkaline phosphatase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase; Peripheral axonal neuropathy; Peripheral nerve disease; Peripheral sensory neuropathy; Polyneuropathy; RI-CMTA; Sensory neuropathy
Age Of Onset: childhood|neonatal/infancy
Prevalence: <1 / 1 000 000




References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:14561495   PMID:17039978   PMID:17433678   PMID:18504680   PMID:18991200   PMID:19500985   PMID:20232219   PMID:25231362   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004420 CLINVAR
  RCV000033147 CLINVAR
  RCV000034153 CLINVAR
  RCV000414821 CLINVAR
  RCV000439841 CLINVAR
  RCV000779562 CLINVAR
  RCV000789780 CLINVAR
dbSNP (RS) rs104894080 CLINVAR
MedGen C0007959 CLINVAR
  C0241005 CLINVAR
  C1842197 CLINVAR
  C1842983 CLINVAR
  C1859198 CLINVAR
  CN517202 CLINVAR
NCBI Gene GDAP1 CLINVAR
OMIM 123320 CLINVAR
  214400 CLINVAR
  606598 CLINVAR
  607831 CLINVAR
  608340 CLINVAR
OMIM Allele 606598.0011 CLINVAR
SNOMED CT 50548001 CLINVAR