ClinVar

NM_014915.3(ANKRD26):c.112C>T (p.Pro38Ser)

Genes:

LOC130003554:ATAC-STARR-seq lymphoblastoid silent region 2243 [Gene]
ANKRD26:ankyrin repeat domain containing 26 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p12.1

Genomic location:

• Chr10: 27100215 (on Assembly GRCh38)
• Chr10: 27389144 (on Assembly GRCh37)

Preferred name:

NM_014915.3(ANKRD26):c.112C>T (p.Pro38Ser)

HGVS:

• NC_000010.11:g.27100215G>A
• NG_031973.2:g.5284C>T
• NM_001256053.2:c.112C>T
• NM_014915.3:c.112C>TMANE SELECT
• NP_001242982.1:p.Pro38Ser
• NP_055730.2:p.Pro38Ser
• NP_055730.2:p.Pro38Ser
• LRG_605t1:c.112C>T
• LRG_605:g.5284C>T
• LRG_605p1:p.Pro38Ser
• NC_000010.10:g.27389144G>A
• NM_014915.2:c.112C>T

This HGVS expression did not pass validation

Protein change:

P38S

Links:

dbSNP: rs374871257

NCBI 1000 Genomes Browser:

rs374871257

Molecular consequence:

• NM_001256053.2:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014915.3:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]