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Variant : CV39693 (NM_014874.3(MFN2):c.647T>C (p.Phe216Ser)) Homo sapiens

Symbol: CV39693
Name: NM_014874.3(MFN2):c.647T>C (p.Phe216Ser)
Condition: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B [RCV000023714]|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, AUTOSOMAL RECESSIVE [RCV000023714]|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B [RCV000023714]|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b [RCV000023714]|Charcot-Marie-Tooth disease, axonal, type 2A2, autosomal recessive [RCV000023714]|Charcot-Marie-Tooth disease, axonal, type 2a2, autosomal recessive [RCV000023714]|Charcot-Marie-Tooth disease, type 2 [RCV000456775]|not provided [RCV000235670]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 02/22/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): LRG_255t1:c.647T>C
LRG_255:g.23637T>C
NG_007945.1:g.23637T>C
NC_000001.11:g.11998817T>C
NC_000001.10:g.12058874T>C
LRG_255p1:p.Phe216Ser
NP_055689.1:p.Phe216Ser
NM_014874.3:c.647T>C
O95140:p.Phe216Ser
NM_001127660.1:c.647T>C
NP_001121132.1:p.Phe216Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,998,817 - 11,998,817CLINVAR
GRCh37112,058,874 - 12,058,874CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8602308
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.