chr16:11553566:G>T Detail (hg38) (LITAF)

Information

Genome

Assembly Position
hg19 chr16:11,647,422-11,647,422 View the variant detail on this assembly version.
hg38 chr16:11,553,566-11,553,566

HGVS

Type Transcript Protein
RefSeq NM_004862.3:c.344C>A NP_004853.2:p.Thr115Asn
NM_001136473.1:c.344C>A NP_001129945.1:p.Thr115Asn
NR_024320.1:c.344C>A
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 603795 OMIM
HGNC 16841 HGNC
Ensembl ENSG00000189067 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
Likely pathogenic 2021-03-17 criteria provided, single submitter Charcot-Marie-Tooth disease type 1C germline unknown Detail
Pathogenic 2018-11-07 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.481 Charcot-Marie-Tooth disease, Type 1C NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn) AND Charcot-Marie-Tooth disease type 1C ClinVar Detail
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn) AND not provided 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
rs104894520 dbSNP
Genome
hg38
Position
chr16:11,553,566-11,553,566
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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