ClinVar

NM_000037.4(ANK1):c.1602+17C>T

Gene:

ANK1:ankyrin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

• Chr8: 41715635 (on Assembly GRCh38)
• Chr8: 41573153 (on Assembly GRCh37)

Preferred name:

NM_000037.4(ANK1):c.1602+17C>T

HGVS:

• NC_000008.11:g.41715635G>A
• NG_012820.2:g.186128C>T
• NM_000037.4:c.1602+17C>TMANE SELECT
• NM_001142446.2:c.1701+17C>T
• NM_020475.3:c.1602+17C>T
• NM_020476.3:c.1602+17C>T
• NM_020477.3:c.1602+17C>T
• NC_000008.10:g.41573153G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000037.4:c.1602+17C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142446.2:c.1701+17C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_020475.3:c.1602+17C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_020476.3:c.1602+17C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_020477.3:c.1602+17C>T - intron variant - [Sequence Ontology: SO:0001627]