ClinVar

NM_016284.5(CNOT1):c.6647A>G (p.Asn2216Ser)

Gene:

CNOT1:CCR4-NOT transcription complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q21

Genomic location:

• Chr16: 58525316 (on Assembly GRCh38)
• Chr16: 58559220 (on Assembly GRCh37)

Preferred name:

NM_016284.5(CNOT1):c.6647A>G (p.Asn2216Ser)

HGVS:

• NC_000016.10:g.58525316T>C
• NM_001265612.2:c.6632A>G
• NM_016284.5:c.6647A>GMANE SELECT
• NP_001252541.1:p.Asn2211Ser
• NP_057368.3:p.Asn2216Ser
• NC_000016.9:g.58559220T>C
• NR_049763.2:n.7088A>G

This HGVS expression did not pass validation

Protein change:

N2211S

Links:

dbSNP: rs1184460054

NCBI 1000 Genomes Browser:

rs1184460054

Molecular consequence:

• NM_001265612.2:c.6632A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_016284.5:c.6647A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_049763.2:n.7088A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1