NM_006269.2(RP1):c.4242_4243del (p.His1414fs) AND Autosomal recessive retinitis pigmentosa

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 26, 2012
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:: RCV001257893.1

Allele description [Variation Report for NM_006269.2(RP1):c.4242_4243del (p.His1414fs)]

NM_006269.2(RP1):c.4242_4243del (p.His1414fs)

Gene:

RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q12.1

Genomic location:

Preferred name:

NM_006269.2(RP1):c.4242_4243del (p.His1414fs)

HGVS:

NC_000008.11:g.54628124_54628125del
NG_009840.2:g.17058_17059del
NM_001375654.1:c.787+5836_787+5837del
NM_006269.2:c.4242_4243delMANE SELECT
NP_006260.1:p.His1414fs
NC_000008.10:g.55540683_55540684del
NC_000008.10:g.55540684_55540685del
NG_009840.1:g.17058_17059del
NM_006269.1:c.4242_4243del
p.(His1414Glnfs*5)

Protein change:

H1414fs

Links:

dbSNP: rs767436678

NCBI 1000 Genomes Browser:

rs767436678

Molecular consequence:

NM_006269.2:c.4242_4243del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375654.1:c.787+5836_787+5837del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Autosomal recessive retinitis pigmentosa
Identifiers:: MedGen: C0339526

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001434661	Faculty of Health Sciences, Beirut Arab University	no assertion criteria provided	Pathogenic (Oct 26, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001434661

Faculty of Health Sciences, Beirut Arab University

no assertion criteria provided

Pathogenic
(Oct 26, 2012)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Arab	germline	yes	5	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS.

Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.

PubMed [citation]

PMID:: 23105016
PMCID:: PMC3561865

Details of each submission

From Faculty of Health Sciences, Beirut Arab University, SCV001434661.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Arab	2	not provided	not provided	literature only	PubMed (1)
2	Arab	3	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine