ClinVar

NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=)

Gene:

ADAMTS13:ADAM metallopeptidase with thrombospondin type 1 motif 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.2

Genomic location:

• Chr9: 133449831 (on Assembly GRCh38)
• Chr9: 136314952 (on Assembly GRCh37)

Preferred name:

NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=)

HGVS:

• NC_000009.12:g.133449831C>T
• NG_011934.2:g.40493C>T
• NM_139025.5:c.2910C>T
• NM_139026.6:c.2817C>T
• NM_139027.6:c.2910C>TMANE SELECT
• NP_620594.1:p.Val970=
• NP_620594.1:p.Val970=
• NP_620595.1:p.Val939=
• NP_620596.2:p.Val970=
• LRG_544t1:c.2910C>T
• LRG_544:g.40493C>T
• LRG_544p1:p.Val970=
• NC_000009.11:g.136314952C>T
• NM_139025.3:c.2910C>T
• NM_139025.4:c.2910C>T
• NR_024514.3:n.1747C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs28641026

NCBI 1000 Genomes Browser:

rs28641026

Molecular consequence:

• NR_024514.3:n.1747C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_139025.5:c.2910C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_139026.6:c.2817C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_139027.6:c.2910C>T - synonymous variant - [Sequence Ontology: SO:0001819]