NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala) AND Short stature

Clinical significance:Likely pathogenic (Last evaluated: Nov 18, 2001)

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:
RCV000736121.1

Allele description [Variation Report for NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)]

NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)

Gene:
FBRS:fibrosin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)
HGVS:
  • NC_000016.10:g.30669598C>G
  • NM_001105079.3:c.2896C>GMANE SELECT
  • NP_001098549.2:p.Pro966Ala
  • NC_000016.9:g.30680919C>G
  • NM_001105079.1:c.1336C>G
Protein change:
P966A
Links:
dbSNP: rs1259852690
NCBI 1000 Genomes Browser:
rs1259852690
Molecular consequence:
  • NM_001105079.3:c.2896C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short stature
Synonyms:
Decreased body height; Height less than 3rd percentile; Small stature; See all synonyms [MedGen]
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000864418Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnbergno assertion criteria providedLikely pathogenic
(Nov 18, 2001)
maternalcase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000864418.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2021

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