Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

CHLORIDE CHANNEL 1, SKELETAL MUSCLE

Synonyms

VARIANT OF UNKNOWN SIGNIFICANCE

ID

http://purl.bioontology.org/ontology/OMIM/118425

altLabel

VARIANT OF UNKNOWN SIGNIFICANCE

MYOTONIA LEVIOR

CLC1

CLCN1

CHLORIDE CHANNEL, MUSCLE

MYOTONIA CONGENITA, AUTOSOMAL DOMINANT

MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE

cui

C0270959

C1413450

C0751360

C2986382

C2936781

Gene Locus

7q35

Gene Symbol

CLCN1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/118425.0004

http://purl.bioontology.org/ontology/OMIM/118425.0006

http://purl.bioontology.org/ontology/OMIM/118425.0018

http://purl.bioontology.org/ontology/OMIM/118425.0017

http://purl.bioontology.org/ontology/OMIM/118425.0019

http://purl.bioontology.org/ontology/OMIM/118425.0020

http://purl.bioontology.org/ontology/OMIM/118425.0021

http://purl.bioontology.org/ontology/OMIM/118425.0001

http://purl.bioontology.org/ontology/OMIM/118425.0002

http://purl.bioontology.org/ontology/OMIM/118425.0015

http://purl.bioontology.org/ontology/OMIM/118425.0007

http://purl.bioontology.org/ontology/OMIM/118425.0003

http://purl.bioontology.org/ontology/OMIM/118425.0014

http://purl.bioontology.org/ontology/OMIM/118425.0016

http://purl.bioontology.org/ontology/OMIM/118425.0008

http://purl.bioontology.org/ontology/OMIM/118425.0009

http://purl.bioontology.org/ontology/OMIM/118425.0010

http://purl.bioontology.org/ontology/OMIM/118425.0011

http://purl.bioontology.org/ontology/OMIM/118425.0013

http://purl.bioontology.org/ontology/OMIM/118425.0012

http://purl.bioontology.org/ontology/OMIM/118425.0005

MIMTYPEMEANING

Gene with known sequence

notation

118425

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

CHLORIDE CHANNEL 1, SKELETAL MUSCLE

tui

T028

T086

T047

Delete Subject Author Type Created
No notes to display