ClinVar

NM_014915.3(ANKRD26):c.17G>A (p.Ser6Asn)

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: 27100310 (on Assembly GRCh38)
• Chr10: 27389239 (on Assembly GRCh37)

Preferred name:

NM_014915.3(ANKRD26):c.17G>A (p.Ser6Asn)

HGVS:

• NC_000010.11:g.27100310C>T
• NG_031973.2:g.5189G>A
• NG_183000.1:g.250C>T
• NM_001256053.2:c.17G>A
• NM_014915.3:c.17G>AMANE SELECT
• NP_001242982.1:p.Ser6Asn
• NP_055730.2:p.Ser6Asn
• NP_055730.2:p.Ser6Asn
• LRG_605t1:c.17G>A
• LRG_605:g.5189G>A
• LRG_605p1:p.Ser6Asn
• NC_000010.10:g.27389239C>T
• NM_014915.2:c.17G>A

This HGVS expression did not pass validation

Protein change:

S6N

Molecular consequence:

• NM_001256053.2:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014915.3:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]