CHASERR

Gene

CHD2 adjacent suppressive regulatory RNA, the group of Long non-coding RNAs with non-systematic symbols

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

LINC01578

MANE transcript

N/A

Inheritance

ClinVar variants

—

Top phenotype

Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities

Max pathogenic AF

—

Genomic locus

chr15:92,819,305-92,899,701

External References & Databases

Ensembl (ENSG00000272888)

NCBI Gene (100507217)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalitiesSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0975874

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalitiesAD

Manifestation: Craniofacial; Neurologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 39442041

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CHASERR variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP