ClinVar

NM_001354930.2(RIPK1):c.306C>T (p.His102=)

Gene:

RIPK1:receptor interacting serine/threonine kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p25.2

Genomic location:

• Chr6: 3077920 (on Assembly GRCh38)
• Chr6: 3078154 (on Assembly GRCh37)

Preferred name:

NM_001354930.2(RIPK1):c.306C>T (p.His102=)

HGVS:

• NC_000006.12:g.3077920C>T
• NG_063914.1:g.19080C>T
• NG_107123.1:g.666C>T
• NM_001317061.3:c.-298C>T
• NM_001354930.2:c.306C>TMANE SELECT
• NM_001354931.2:c.306C>T
• NM_001354932.2:c.-298C>T
• NM_001354933.2:c.-298C>T
• NM_001354934.2:c.-298C>T
• NM_003804.6:c.306C>T
• NP_001341859.1:p.His102=
• NP_001341860.1:p.His102=
• NP_003795.2:p.His102=
• NC_000006.11:g.3078154C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001317061.3:c.-298C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354932.2:c.-298C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354933.2:c.-298C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354934.2:c.-298C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354930.2:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354931.2:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003804.6:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]