ClinVar

NM_001388492.1(HTT):c.58_110= (p.Gln20_Gln37=)

Genes:

LOC129929027:ATAC-STARR-seq lymphoblastoid silent region 15199 [Gene]
LOC109461479:huntingtin repeat instability region [Gene]
HTT:huntingtin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 3074877 - 3074882 (on Assembly GRCh38)
• Chr4: 3076604 - 3076609 (on Assembly GRCh37)

Preferred name:

NM_001388492.1(HTT):c.58_110= (p.Gln20_Gln37=)

HGVS:

• NC_000004.12:g.3074879GCA[17]
• NG_009378.1:g.5199GCA[19]
• NG_052623.1:g.103GCA[17]
• NM_001388492.1:c.58_110=MANE SELECT
• NM_002111.8:c.54GCA[19]
• NP_001375421.1:p.Gln20_Gln37=
• NP_002102.4:p.Gln39_Gln40del
• LRG_763t1:c.54GCA[19]
• LRG_763:g.5199GCA[19]
• LRG_763p1:p.Gln39_Gln40del
• NC_000004.11:g.3076606GCA[17]

This HGVS expression did not pass validation

Links:

dbSNP: rs71180116

NCBI 1000 Genomes Browser:

rs71180116

Molecular consequence:

• NM_002111.8:c.54GCA[19] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_001388492.1:c.58_110= - no sequence alteration - [Sequence Ontology: SO:0002073]