U.S. flag

An official website of the United States government

NM_004260.4(RECQL4):c.[1724_1725del;691G>A] AND Rothmund-Thomson syndrome type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 31, 2019
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:
RCV001293693.2

Alleles description [Variation Report for NM_004260.4(RECQL4):c.[1724_1725del;691G>A]]

NM_004260.4(RECQL4):c.1724_1725del (p.His575fs)

Gene:
RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_004260.4(RECQL4):c.1724_1725del (p.His575fs)
HGVS:
  • NC_000008.11:g.144514342GT[1]
  • NG_016430.1:g.8482AC[1]
  • NG_033083.1:g.1378GT[1]
  • NM_004260.4:c.1724_1725delMANE SELECT
  • NP_004251.4:p.His575fs
  • LRG_277t1:c.1724_1725del
  • LRG_277p1:p.His575fs
  • NC_000008.10:g.145739726GT[1]
  • NM_004260.3:c.1724_1725delAC
Protein change:
H575fs
Links:
dbSNP: rs1827839026
NCBI 1000 Genomes Browser:
rs1827839026
Molecular consequence:
  • NM_004260.4:c.1724_1725del - frameshift variant - [Sequence Ontology: SO:0001589]

NM_004260.4(RECQL4):c.691G>A (p.Gly231Ser)

Gene:
RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_004260.4(RECQL4):c.691G>A (p.Gly231Ser)
HGVS:
  • NC_000008.11:g.144516428C>T
  • NG_016430.1:g.6399G>A
  • NG_033083.1:g.3464C>T
  • NM_004260.4:c.691G>AMANE SELECT
  • NP_004251.4:p.Gly231Ser
  • LRG_277t1:c.691G>A
  • LRG_277p1:p.Gly231Ser
  • NC_000008.10:g.145741812C>T
  • NM_004260.3:c.691G>A
Protein change:
G231S
Links:
dbSNP: rs1001434106
NCBI 1000 Genomes Browser:
rs1001434106
Molecular consequence:
  • NM_004260.4:c.691G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rothmund-Thomson syndrome type 2 (RTS2)
Identifiers:
MONDO: MONDO:0016369; MedGen: C5203410; OMIM: 268400

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001482327Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
no assertion criteria provided
Pathogenic
(May 31, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital, SCV001482327.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024