ClinVar

NM_003126.4(SPTA1):c.*99TG[14]

Genes:

OR10Z1:olfactory receptor family 10 subfamily Z member 1 [Gene - HGNC]
SPTA1:spectrin alpha, erythrocytic 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1q23.1

Genomic location:

• Chr1: 158611132 - 158611137 (on Assembly GRCh38)
• Chr1: 158580922 - 158580927 (on Assembly GRCh37)

Preferred name:

NM_003126.4(SPTA1):c.*99TG[14]

HGVS:

• NC_000001.11:g.158611133AC[14]
• NG_011474.1:g.80552TG[14]
• NM_001004478.2:c.*3753AC[14]MANE SELECT
• NM_003126.4:c.*99TG[14]MANE SELECT
• LRG_1131t1:c.*98_*99GT[14]
• LRG_1131:g.80552TG[14]
• NC_000001.10:g.158580923AC[14]
• NM_003126.2:c.*127_*132delTGTGTG
• NM_003126.3:c.*98_*99GT[14]

This HGVS expression did not pass validation

Links:

dbSNP: rs55832242

NCBI 1000 Genomes Browser:

rs55832242

Molecular consequence:

• NM_001004478.2:c.*3753AC[14] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_003126.4:c.*99TG[14] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]