ClinVar

NM_006017.3(PROM1):c.1984-1G>T

Gene:

PROM1:prominin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.32

Genomic location:

• Chr4: 15989825 (on Assembly GRCh38)
• Chr4: 15991448 (on Assembly GRCh37)

Preferred name:

NM_006017.3(PROM1):c.1984-1G>T

Other names:

NP_006008.1:p.?

HGVS:

• NC_000004.12:g.15989825C>A
• NG_011696.2:g.99235G>T
• NM_001145847.2:c.1957-1G>T
• NM_001145848.2:c.1957-1G>T
• NM_001145849.2:c.1984-1G>T
• NM_001145850.2:c.1984-1G>T
• NM_001145851.2:c.1957-1G>T
• NM_001145852.2:c.1957-1G>T
• NM_001371406.1:c.1957-1G>T
• NM_001371407.1:c.1957-1G>T
• NM_001371408.1:c.1957-1G>T
• NM_006017.3:c.1984-1G>TMANE SELECT
• NC_000004.11:g.15991448C>A
• NM_006017.2:c.1984-1G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs373680665

NCBI 1000 Genomes Browser:

rs373680665

Molecular consequence:

• NM_001145847.2:c.1957-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001145848.2:c.1957-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001145849.2:c.1984-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001145850.2:c.1984-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001145851.2:c.1957-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001145852.2:c.1957-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001371406.1:c.1957-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001371407.1:c.1957-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001371408.1:c.1957-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_006017.3:c.1984-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]