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NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) AND Abnormality of neuronal migration

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 31, 2014
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:
RCV000201420.1

Allele description [Variation Report for NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)]

NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)
Other names:
p.R2654K:AGG>AAG
HGVS:
  • NC_000002.12:g.178771366C>T
  • NG_011618.3:g.64437G>A
  • NM_001256850.1:c.7961G>A
  • NM_001267550.2:c.7961G>AMANE SELECT
  • NM_003319.4:c.7823G>A
  • NM_133378.4:c.7961G>A
  • NM_133379.5:c.7961G>A
  • NM_133432.3:c.7823G>A
  • NM_133437.4:c.7823G>A
  • NP_001243779.1:p.Arg2654Lys
  • NP_001254479.2:p.Arg2654Lys
  • NP_003310.4:p.Arg2608Lys
  • NP_596869.4:p.Arg2654Lys
  • NP_596870.2:p.Arg2654Lys
  • NP_597676.3:p.Arg2608Lys
  • NP_597681.4:p.Arg2608Lys
  • LRG_391t1:c.7961G>A
  • LRG_391:g.64437G>A
  • NC_000002.11:g.179636093C>T
  • NM_001267550.1:c.7961G>A
  • NM_003319.4:c.7823G>A
  • c.7961G>A
Protein change:
R2608K
Links:
dbSNP: rs147207100
NCBI 1000 Genomes Browser:
rs147207100
Molecular consequence:
  • NM_001256850.1:c.7961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.7961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.7823G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.7961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133379.5:c.7961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.7823G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.7823G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Abnormality of neuronal migration
Identifiers:
MedGen: C1837249; Human Phenotype Ontology: HP:0002269

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240003Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire
no assertion criteria provided
Benign
(Oct 31, 2014) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes31not providednot providednot providedclinical testing

Details of each submission

From Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire, SCV000240003.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided3not provided1not provided

Last Updated: Apr 6, 2024