ClinVar

NM_006096.4(NDRG1):c.699-221G>T

Gene:

NDRG1:N-myc downstream regulated 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.22

Genomic location:

• Chr8: 133248992 (on Assembly GRCh38)
• Chr8: 134261235 (on Assembly GRCh37)

Preferred name:

NM_006096.4(NDRG1):c.699-221G>T

HGVS:

• NC_000008.11:g.133248992C>A
• NG_007943.1:g.53264G>T
• NM_001135242.2:c.699-221G>T
• NM_001258432.2:c.501-221G>T
• NM_001258433.2:c.456-221G>T
• NM_001374844.1:c.750-221G>T
• NM_001374845.1:c.699-221G>T
• NM_001374846.1:c.699-221G>T
• NM_001374847.1:c.501-221G>T
• NM_006096.4:c.699-221G>TMANE SELECT
• LRG_258:g.53264G>T
• NC_000008.10:g.134261235C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs72731560

NCBI 1000 Genomes Browser:

rs72731560

Molecular consequence:

• NM_001135242.2:c.699-221G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258432.2:c.501-221G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258433.2:c.456-221G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374844.1:c.750-221G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374845.1:c.699-221G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374846.1:c.699-221G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374847.1:c.501-221G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006096.4:c.699-221G>T - intron variant - [Sequence Ontology: SO:0001627]