NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 8, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000676670.3

Allele description [Variation Report for NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu)]

NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu)

Gene:
CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu)
HGVS:
  • NC_000010.11:g.49664976C>T
  • NG_011797.1:g.60882C>T
  • NM_001142929.2:c.1823C>T
  • NM_001142933.2:c.1931C>T
  • NM_001142934.2:c.1823C>T
  • NM_020549.4:c.2177C>T
  • NM_020549.5:c.2177C>TMANE SELECT
  • NM_020984.4:c.1823C>T
  • NM_020985.4:c.1823C>T
  • NM_020986.4:c.1823C>T
  • NP_001136401.2:p.Pro608Leu
  • NP_001136405.2:p.Pro644Leu
  • NP_001136406.2:p.Pro608Leu
  • NP_065574.3:p.Pro726Leu
  • NP_065574.4:p.Pro726Leu
  • NP_066264.4:p.Pro608Leu
  • NP_066265.4:p.Pro608Leu
  • NP_066266.4:p.Pro608Leu
  • NC_000010.10:g.50873022C>T
Protein change:
P608L
Links:
dbSNP: rs79414242
NCBI 1000 Genomes Browser:
rs79414242
Molecular consequence:
  • NM_001142929.2:c.1823C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142933.2:c.1931C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142934.2:c.1823C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020549.4:c.2177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020549.5:c.2177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020984.4:c.1823C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020985.4:c.1823C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020986.4:c.1823C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000802465Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedUncertain significance
(Nov 8, 2017)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000802465.1

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

Last Updated: Oct 25, 2021

Support Center