NM_000540.3(RYR1):c.1792-103C>T AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 15, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001641447.2

Allele description

NM_000540.3(RYR1):c.1792-103C>T

Gene:

RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000540.3(RYR1):c.1792-103C>T

HGVS:

NC_000019.10:g.38457394C>T
NG_008866.1:g.28695C>T
NM_000540.3:c.1792-103C>TMANE SELECT
NM_001042723.2:c.1792-103C>T
LRG_766:g.28695C>T
NC_000019.9:g.38948034C>T

Links:

dbSNP: rs114840566

NCBI 1000 Genomes Browser:

rs114840566

Molecular consequence:

NM_000540.3:c.1792-103C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001042723.2:c.1792-103C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

MI-P-H1-abk-b-02-1-UM.s1 MI-P-H1 Sus scrofa cDNA clone MI-P-H1-abk-b-02-1-UM 3',...
MI-P-H1-abk-b-02-1-UM.s1 MI-P-H1 Sus scrofa cDNA clone MI-P-H1-abk-b-02-1-UM 3', mRNA sequence
gi|11988839|gnl|dbEST|7235453|gb|BF 1.1|

Nucleotide
UNL-P-FN-cc-c-06-0-UNL.s1 UNL-P-FN Sus scrofa cDNA clone UNL-P-FN-cc-c-06-0-UNL ...
UNL-P-FN-cc-c-06-0-UNL.s1 UNL-P-FN Sus scrofa cDNA clone UNL-P-FN-cc-c-06-0-UNL 3', mRNA sequence
gi|14658137|gnl|dbEST|8978343|gb|BI 8.1|

Nucleotide
Hamiota altilis isolate 53 large subunit ribosomal RNA gene, partial sequence; m...
Hamiota altilis isolate 53 large subunit ribosomal RNA gene, partial sequence; mitochondrial
gi|1899878827|gb|MT983761.1|

Nucleotide
RecName: Full=Olfactory receptor 7E24; AltName: Full=Olfactory receptor OR19-14
RecName: Full=Olfactory receptor 7E24; AltName: Full=Olfactory receptor OR19-14
gi|74757943|sp|Q6IFN5.1|O7E24_HUMAN

Protein
AL962866 XGC-gastrula Xenopus tropicalis cDNA clone TGas110h06 5', mRNA sequence
AL962866 XGC-gastrula Xenopus tropicalis cDNA clone TGas110h06 5', mRNA sequence
gi|39013151|gnl|dbEST|20751421|emb| 866.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001859768	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jul 15, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001859768

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jul 15, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001859768.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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