NM_000329.3(RPE65):c.1243+29G>A AND not provided

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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 16, 2020
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:: RCV001571731.3

Allele description

NM_000329.3(RPE65):c.1243+29G>A

Gene:

RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

Preferred name:

NM_000329.3(RPE65):c.1243+29G>A

HGVS:

NC_000001.11:g.68431442C>T
NG_008472.2:g.23518G>A
NM_000329.3:c.1243+29G>AMANE SELECT
NC_000001.10:g.68897125C>T

Links:

dbSNP: rs116540274

NCBI 1000 Genomes Browser:

rs116540274

Molecular consequence:

NM_000329.3:c.1243+29G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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hypothetical protein [Megasphaera vaginalis (ex Srinivasan et al. 2021)]
hypothetical protein [Megasphaera vaginalis (ex Srinivasan et al. 2021)]
gi|1782469870|ref|WP_155914516.1|

Protein
alpha-hydroxy-acid oxidizing protein [Megasphaera vaginalis (ex Srinivasan et al...
alpha-hydroxy-acid oxidizing protein [Megasphaera vaginalis (ex Srinivasan et al. 2021)]
gi|553309332|ref|WP_023054383.1|

Protein
SRX1516053 (1)
SRA
kinesin-like protein KIFC3 isoform 6 [Homo sapiens]
kinesin-like protein KIFC3 isoform 6 [Homo sapiens]
gi|973353100|ref|NP_001305641.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001796253	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 16, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001796253

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jul 16, 2020)

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, SCV001796253.1

#	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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