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NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) AND Bardet-Biedl syndrome 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 25, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000985035.1

Allele description [Variation Report for NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)]

NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)

Gene:
MKKS:MKKS centrosomal shuttling protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p12.2
Genomic location:
Preferred name:
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)
HGVS:
  • NC_000020.11:g.10413399G>A
  • NG_009109.2:g.25820C>T
  • NM_018848.3:c.116C>T
  • NM_170784.3:c.116C>TMANE SELECT
  • NP_061336.1:p.Pro39Leu
  • NP_740754.1:p.Pro39Leu
  • NP_740754.1:p.Pro39Leu
  • NC_000020.10:g.10394047G>A
  • NM_170784.2:c.116C>T
Protein change:
P39L
Links:
dbSNP: rs1270369106
NCBI 1000 Genomes Browser:
rs1270369106
Molecular consequence:
  • NM_018848.3:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170784.3:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bardet-Biedl syndrome 6 (BBS6)
Identifiers:
MONDO: MONDO:0011523; MedGen: C1858054; Orphanet: 110; OMIM: 605231

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001132970Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Pathogenic
(Aug 25, 2019) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001132970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024