ClinVar

NM_006096.4(NDRG1):c.789G>A (p.Ser263=)

Genes:

LOC126860531:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:134259869-134261068 [Gene]
NDRG1:N-myc downstream regulated 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.22

Genomic location:

• Chr8: 133247893 (on Assembly GRCh38)
• Chr8: 134260136 (on Assembly GRCh37)

Preferred name:

NM_006096.4(NDRG1):c.789G>A (p.Ser263=)

HGVS:

• NC_000008.11:g.133247893C>T
• NG_007943.1:g.54363G>A
• NM_001135242.2:c.789G>A
• NM_001258432.2:c.591G>A
• NM_001258433.2:c.546G>A
• NM_001374844.1:c.840G>A
• NM_001374845.1:c.789G>A
• NM_001374846.1:c.789G>A
• NM_001374847.1:c.591G>A
• NM_006096.4:c.789G>AMANE SELECT
• NP_001128714.1:p.Ser263=
• NP_001245361.1:p.Ser197=
• NP_001245362.1:p.Ser182=
• NP_001361773.1:p.Ser280=
• NP_001361774.1:p.Ser263=
• NP_001361775.1:p.Ser263=
• NP_001361776.1:p.Ser197=
• NP_006087.2:p.Ser263=
• NP_006087.2:p.Ser263=
• LRG_258t1:c.789G>A
• LRG_258:g.54363G>A
• LRG_258p1:p.Ser263=
• NC_000008.10:g.134260136C>T
• NM_006096.3:c.789G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs61755062

NCBI 1000 Genomes Browser:

rs61755062

Molecular consequence:

• NM_001135242.2:c.789G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258432.2:c.591G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258433.2:c.546G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374844.1:c.840G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374845.1:c.789G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374846.1:c.789G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374847.1:c.591G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006096.4:c.789G>A - synonymous variant - [Sequence Ontology: SO:0001819]