ClinVar

NM_006096.4(NDRG1):c.753G>A (p.Leu251=)

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: 133248717 (on Assembly GRCh38)
• Chr8: 134260960 (on Assembly GRCh37)

Preferred name:

NM_006096.4(NDRG1):c.753G>A (p.Leu251=)

HGVS:

• NC_000008.11:g.133248717C>T
• NG_007943.1:g.53539G>A
• NG_085031.1:g.1192C>T
• NM_001135242.2:c.753G>A
• NM_001258432.2:c.555G>A
• NM_001258433.2:c.510G>A
• NM_001374844.1:c.804G>A
• NM_001374845.1:c.753G>A
• NM_001374846.1:c.753G>A
• NM_001374847.1:c.555G>A
• NM_006096.4:c.753G>AMANE SELECT
• NP_001128714.1:p.Leu251=
• NP_001245361.1:p.Leu185=
• NP_001245362.1:p.Leu170=
• NP_001361773.1:p.Leu268=
• NP_001361774.1:p.Leu251=
• NP_001361775.1:p.Leu251=
• NP_001361776.1:p.Leu185=
• NP_006087.2:p.Leu251=
• NP_006087.2:p.Leu251=
• LRG_258t1:c.753G>A
• LRG_258:g.53539G>A
• LRG_258p1:p.Leu251=
• NC_000008.10:g.134260960C>T
• NM_006096.3:c.753G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001135242.2:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258432.2:c.555G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258433.2:c.510G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374844.1:c.804G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374845.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374846.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374847.1:c.555G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006096.4:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]