GRCh37/hg19 6q27(chr6:168552894-170919482)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
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:: RCV002292396.1

Allele description [Variation Report for GRCh37/hg19 6q27(chr6:168552894-170919482)x1]

GRCh37/hg19 6q27(chr6:168552894-170919482)x1

Genes:

ERMARD:ER membrane associated RNA degradation [Gene - OMIM - HGNC]
PHF10:PHD finger protein 10 [Gene - OMIM - HGNC]
SMOC2:SPARC related modular calcium binding 2 [Gene - OMIM - HGNC]
TBP:TATA-box binding protein [Gene - OMIM - HGNC]
WDR27:WD repeat domain 27 [Gene - HGNC]
C6orf120:chromosome 6 open reading frame 120 [Gene - OMIM - HGNC]
DLL1:delta like canonical Notch ligand 1 [Gene - OMIM - HGNC]
DACT2:dishevelled binding antagonist of beta catenin 2 [Gene - OMIM - HGNC]
DYNLT2:dynein light chain Tctex-type 2 [Gene - OMIM - HGNC]
FAM120B:family with sequence similarity 120B [Gene - OMIM - HGNC]
PDCD2:programmed cell death 2 [Gene - OMIM - HGNC]
PSMB1:proteasome 20S subunit beta 1 [Gene - OMIM - HGNC]
THBS2:thrombospondin 2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

6q27

Genomic location:

Chr6: 168552894 - 170919482 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 6q27(chr6:168552894-170919482)x1

HGVS:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

Recent activity

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RecName: Full=Polyprenal reductase; AltName: Full=3-oxo-5-alpha-steroid 4-dehydr...
RecName: Full=Polyprenal reductase; AltName: Full=3-oxo-5-alpha-steroid 4-dehydrogenase 3; AltName: Full=Steroid 5-alpha-reductase 2-like; AltName: Full=Steroid 5-alpha-reductase 3; Short=S5AR 3; Short=SR type 3
gi|306526233|sp|Q9WUP4.2|SR5A3_MOUS

Protein
Metrosideros sp. 'Vanuatu' internal transcribed spacer 1, 5.8S ribosomal RNA gen...
Metrosideros sp. 'Vanuatu' internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence
gi|7582233|gb|AF172761.1|

Nucleotide
Metrosideros collina var. fruticosa external transcribed spacer, partial sequenc...
Metrosideros collina var. fruticosa external transcribed spacer, partial sequence
gi|18028338|gb|AF328066.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002584535	Cytogenetics, Genetics Associates, Inc.	no assertion criteria provided	Pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002584535

Cytogenetics, Genetics Associates, Inc.

no assertion criteria provided

Pathogenic

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Cytogenetics, Genetics Associates, Inc., SCV002584535.1

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

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

Last Updated: Mar 26, 2023

ClinVar

Relating variation to medicine

GRCh37/hg19 6q27(chr6:168552894-170919482)x1 AND See cases

Allele description [Variation Report for GRCh37/hg19 6q27(chr6:168552894-170919482)x1]

GRCh37/hg19 6q27(chr6:168552894-170919482)x1

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Cytogenetics, Genetics Associates, Inc., SCV002584535.1