ClinVar

NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile)

Gene:

ANK1:ankyrin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

• Chr8: 41694044 (on Assembly GRCh38)
• Chr8: 41551562 (on Assembly GRCh37)

Preferred name:

NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile)

HGVS:

• NC_000008.11:g.41694044C>A
• NG_012820.2:g.207719G>T
• NM_000037.4:c.3386G>TMANE SELECT
• NM_001142446.2:c.3509G>T
• NM_020475.3:c.3386G>T
• NM_020476.3:c.3386G>T
• NM_020477.3:c.3386G>T
• NP_000028.3:p.Ser1129Ile
• NP_001135918.1:p.Ser1170Ile
• NP_065208.2:p.Ser1129Ile
• NP_065209.2:p.Ser1129Ile
• NP_065210.2:p.Ser1129Ile
• NC_000008.10:g.41551562C>A
• NM_000037.3:c.3386G>T
• p.Ser1129Ile

This HGVS expression did not pass validation

Protein change:

S1129I

Links:

dbSNP: rs2150592257

NCBI 1000 Genomes Browser:

rs2150592257

Molecular consequence:

• NM_000037.4:c.3386G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142446.2:c.3509G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020475.3:c.3386G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020476.3:c.3386G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020477.3:c.3386G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1