ClinVar

NM_006096.4(NDRG1):c.731C>T (p.Pro244Leu)

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: 133248739 (on Assembly GRCh38)
• Chr8: 134260982 (on Assembly GRCh37)

Preferred name:

NM_006096.4(NDRG1):c.731C>T (p.Pro244Leu)

HGVS:

• NC_000008.11:g.133248739G>A
• NG_007943.1:g.53517C>T
• NM_001135242.2:c.731C>T
• NM_001258432.2:c.533C>T
• NM_001258433.2:c.488C>T
• NM_001374844.1:c.782C>T
• NM_001374845.1:c.731C>T
• NM_001374846.1:c.731C>T
• NM_001374847.1:c.533C>T
• NM_006096.4:c.731C>TMANE SELECT
• NP_001128714.1:p.Pro244Leu
• NP_001245361.1:p.Pro178Leu
• NP_001245362.1:p.Pro163Leu
• NP_001361773.1:p.Pro261Leu
• NP_001361774.1:p.Pro244Leu
• NP_001361775.1:p.Pro244Leu
• NP_001361776.1:p.Pro178Leu
• NP_006087.2:p.Pro244Leu
• LRG_258:g.53517C>T
• NC_000008.10:g.134260982G>A

This HGVS expression did not pass validation

Protein change:

P163L

Links:

dbSNP: rs748984505

NCBI 1000 Genomes Browser:

rs748984505

Molecular consequence:

• NM_001135242.2:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258432.2:c.533C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258433.2:c.488C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374844.1:c.782C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374845.1:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374846.1:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374847.1:c.533C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006096.4:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]