chr6:78172750:A>G Detail (hg19) (HTR1B)

Information

Genome

Assembly Position
hg19 chr6:78,172,750-78,172,750
hg38 chr6:77,463,033-77,463,033 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000863.2:c.371T>C NP_000854.1:p.Phe124Ser
Ensemble ENST00000369947.5:c.371T>C ENST00000369947.5:p.Phe124Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 182131 OMIM
HGNC 5287 HGNC
Ensembl ENSG00000135312 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Headache Genomic DNA of a relatively small but very well-characterized set of migraine pa... BeFree 17501853 Detail
Annotation

Annotations

DescrptionSourceLinks
Genomic DNA of a relatively small but very well-characterized set of migraine patients with consiste... 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
rs130060 dbSNP
Genome
hg19
Position
chr6:78,172,750-78,172,750
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser