chr1:156138560:T>A Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,108,351-156,108,351 View the variant detail on this assembly version.
hg38 chr1:156,138,560-156,138,560

HGVS

Type Transcript Protein
RefSeq NM_001282626.1:c.1771T>A NP_001269555.1:p.Cys591Ser
NM_170707.3:c.1771T>A NP_733821.1:p.Cys591Ser
NM_001257374.2:c.1435T>A NP_001244303.1:p.Cys479Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
Review star
Show details
Links
Type Database ID Link
Gene MIM 150330 OMIM
HGNC 6636 HGNC
Ensembl ENSG00000160789 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Hutchinson-Gilford syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.627 progeria NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser) AND Hutchinson-Gilford syndrome ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs797044486 dbSNP
Genome
hg38
Position
chr1:156,138,560-156,138,560
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser