chr16:89611139:C>T Detail (hg19) (SPG7)

Information

Genome

Assembly Position
hg19 chr16:89,611,139-89,611,139
hg38 chr16:89,544,731-89,544,731 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003119.3:c.1387C>T NP_003110.1:p.Arg463Ter
Ensemble ENST00000643649.1:c.1408C>T ENST00000643649.1:p.Arg470Ter
ENST00000647079.1:c.1000C>T ENST00000647079.1:p.Arg334Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 602783 OMIM
HGNC 11237 HGNC
Ensembl ENSG00000197912 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
Pathogenic Likely pathogenic 2024-01-17 criteria provided, multiple submitters, no conflicts hereditary spastic paraplegia 7 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter) AND Hereditary spastic paraplegia 7 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
rs748555510 dbSNP
Genome
hg19
Position
chr16:89,611,139-89,611,139
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser