NM_000328.2(RPGR):c.*874_*875insA AND not provided

NM_000328.2(RPGR):c.874_875insA 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:: RCV000085101.1

Allele description [Variation Report for NM_000328.2(RPGR):c.874_875insA]

NM_000328.2(RPGR):c.874_875insA

Gene:

RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_000328.2(RPGR):c.*874_*875insA

HGVS:

NC_000023.11:g.38268751_38268752insT
NG_009553.1:g.63784_63785insA
NC_000023.10:g.38128004_38128005insT

Links:

dbSNP: rs281865323

NCBI 1000 Genomes Browser:

rs281865323

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000117238	Retina International	no classification provided	not provided	not provided	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000117238

Retina International

no classification provided

not provided

Description

http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_RPGR:c.3322_3323insA: SCV000117238

Help

Summary from all submissions

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

Details of each submission

From Retina International, SCV000117238.1

#	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	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine

Allele description [Variation Report for NM_000328.2(RPGR):c.*874_*875insA]