ClinVar

NM_001843.4(CNTN1):c.1743C>T (p.Tyr581=)

Gene:

CNTN1:contactin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q12

Genomic location:

• Chr12: 40959173 (on Assembly GRCh38)
• Chr12: 41352975 (on Assembly GRCh37)

Preferred name:

NM_001843.4(CNTN1):c.1743C>T (p.Tyr581=)

HGVS:

• NC_000012.12:g.40959173C>T
• NG_012058.2:g.271618C>T
• NM_001256063.2:c.1743C>T
• NM_001256064.2:c.1743C>T
• NM_001843.4:c.1743C>TMANE SELECT
• NM_175038.2:c.1710C>T
• NP_001242992.1:p.Tyr581=
• NP_001242993.1:p.Tyr581=
• NP_001834.2:p.Tyr581=
• NP_778203.1:p.Tyr570=
• NC_000012.11:g.41352975C>T
• NM_001843.3:c.1743C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001256063.2:c.1743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256064.2:c.1743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001843.4:c.1743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175038.2:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]