NM_194454.3(KRIT1):c.*378dup AND Angiokeratoma corporis diffusum with arteriovenous fistulas

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000380714.2

Allele description [Variation Report for NM_194454.3(KRIT1):c.*378dup]

NM_194454.3(KRIT1):c.*378dup

Gene:
KRIT1:KRIT1 ankyrin repeat containing [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_194454.3(KRIT1):c.*378dup
HGVS:
  • NC_000007.14:g.92200372dup
  • NG_012964.1:g.50743dup
  • NM_001013406.2:c.*378dup
  • NM_001350669.1:c.*378dup
  • NM_001350670.1:c.*378dup
  • NM_001350671.1:c.*378dup
  • NM_001350672.1:c.*378dup
  • NM_001350673.1:c.*378dup
  • NM_001350674.1:c.*378dup
  • NM_001350675.1:c.*378dup
  • NM_001350676.1:c.*378dup
  • NM_001350677.1:c.*378dup
  • NM_001350678.1:c.*378dup
  • NM_001350679.1:c.*378dup
  • NM_001350680.1:c.*378dup
  • NM_001350681.1:c.*378dup
  • NM_001350682.1:c.*378dup
  • NM_001350683.1:c.*378dup
  • NM_001350684.1:c.*378dup
  • NM_001350685.1:c.*378dup
  • NM_001350686.1:c.*378dup
  • NM_001350687.1:c.*378dup
  • NM_001350688.1:c.*378dup
  • NM_001350689.1:c.*378dup
  • NM_001350690.1:c.*378dup
  • NM_001350691.1:c.*378dup
  • NM_001350692.1:c.*378dup
  • NM_001350693.1:c.*378dup
  • NM_001350694.1:c.*378dup
  • NM_001350695.1:c.*378dup
  • NM_001350696.1:c.*378dup
  • NM_001350697.1:c.*378dup
  • NM_004912.4:c.*378dup
  • NM_194454.3:c.*378dupMANE SELECT
  • NM_194455.1:c.*378dup
  • NM_194456.1:c.*378dup
  • LRG_650t1:c.*378dup
  • LRG_650:g.50743dup
  • NC_000007.13:g.91829686dup
  • NM_194456.1:c.*378dupA
Links:
dbSNP: rs34910226
NCBI 1000 Genomes Browser:
rs34910226
Molecular consequence:
  • NM_001013406.2:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350669.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350670.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350671.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350672.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350673.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350674.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350675.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350676.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350677.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350678.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350679.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350680.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350681.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350682.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350683.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350684.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350685.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350686.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350687.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350688.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350689.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350690.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350691.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350692.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350693.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350694.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350695.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350696.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350697.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004912.4:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_194454.3:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_194455.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_194456.1:c.*378dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Angiokeratoma corporis diffusum with arteriovenous fistulas
Identifiers:
MONDO: MONDO:0010885; MedGen: C1838141; OMIM: 600419

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000470407Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000470407.2

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

Last Updated: Oct 25, 2021

Support Center