NM_002386.4(MC1R):c.575T>C (p.Leu192Pro) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000148030.1

Allele description [Variation Report for NM_002386.4(MC1R):c.575T>C (p.Leu192Pro)]

NM_002386.4(MC1R):c.575T>C (p.Leu192Pro)

Gene:

MC1R:melanocortin 1 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_002386.4(MC1R):c.575T>C (p.Leu192Pro)

HGVS:

NC_000016.10:g.89919833T>C
NG_012026.1:g.6955T>C
NG_027810.1:g.2825T>C
NM_002386.4:c.575T>CMANE SELECT
NP_002377.4:p.Leu192Pro
NP_002377.4:p.Leu192Pro
NC_000016.9:g.89986241T>C
NM_002386.3:c.575T>C

Protein change:

L192P

Links:

dbSNP: rs587783375

NCBI 1000 Genomes Browser:

rs587783375

Molecular consequence:

NM_002386.4:c.575T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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D020182 (1)
MeSH
Sleep Apnea, Central
Sleep Apnea, Central
A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of effor...<br/>Year introduced: 2000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000195530	Department of Molecular Biophysics, University of Lodz	no classification provided	not provided	unknown	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000195530

Department of Molecular Biophysics, University of Lodz

no classification provided

not provided

unknown

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Department of Molecular Biophysics, University of Lodz, SCV000195530.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

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