ClinVar

NM_001385641.1(SAMD11):c.2130C>T (p.Asp710=)

Genes:

LOC129929063:ATAC-STARR-seq lymphoblastoid active region 4 [Gene]
SAMD11:sterile alpha motif domain containing 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

• Chr1: 943329 (on Assembly GRCh38)
• Chr1: 878709 (on Assembly GRCh37)

Preferred name:

NM_001385641.1(SAMD11):c.2130C>T (p.Asp710=)

HGVS:

• NC_000001.11:g.943329C>T
• NM_001385640.1:c.2133C>T
• NM_001385641.1:c.2130C>TMANE SELECT
• NM_152486.2:c.1641C>T
• NM_152486.4:c.1641C>T
• NP_001372569.1:p.Asp711=
• NP_001372570.1:p.Asp710=
• NP_689699.3:p.Asp547=
• NC_000001.10:g.878709C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144453653

NCBI 1000 Genomes Browser:

rs144453653

Molecular consequence:

• NM_001385640.1:c.2133C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385641.1:c.2130C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152486.4:c.1641C>T - synonymous variant - [Sequence Ontology: SO:0001819]