ClinVar

NM_006096.4(NDRG1):c.727A>G (p.Met243Val)

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: 133248743 (on Assembly GRCh38)
• Chr8: 134260986 (on Assembly GRCh37)

Preferred name:

NM_006096.4(NDRG1):c.727A>G (p.Met243Val)

Other names:

p.Met243Val

HGVS:

• NC_000008.11:g.133248743T>C
• NG_007943.1:g.53513A>G
• NM_001135242.2:c.727A>G
• NM_001258432.2:c.529A>G
• NM_001258433.2:c.484A>G
• NM_001374844.1:c.778A>G
• NM_001374845.1:c.727A>G
• NM_001374846.1:c.727A>G
• NM_001374847.1:c.529A>G
• NM_006096.4:c.727A>GMANE SELECT
• NP_001128714.1:p.Met243Val
• NP_001245361.1:p.Met177Val
• NP_001245362.1:p.Met162Val
• NP_001361773.1:p.Met260Val
• NP_001361774.1:p.Met243Val
• NP_001361775.1:p.Met243Val
• NP_001361776.1:p.Met177Val
• NP_006087.2:p.Met243Val
• LRG_258t1:c.727A>G
• LRG_258:g.53513A>G
• NC_000008.10:g.134260986T>C
• NM_006096.3:c.727A>G

This HGVS expression did not pass validation

Protein change:

M162V

Links:

dbSNP: rs767505621

NCBI 1000 Genomes Browser:

rs767505621

Molecular consequence:

• NM_001135242.2:c.727A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258432.2:c.529A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258433.2:c.484A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374844.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374845.1:c.727A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374846.1:c.727A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374847.1:c.529A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_006096.4:c.727A>G - missense variant - [Sequence Ontology: SO:0001583]