ClinVar

NM_012062.5(DNM1L):c.456G>T (p.Lys152Asn)

Gene:

DNM1L:dynamin 1 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p11.21

Genomic location:

• Chr12: 32711015 (on Assembly GRCh38)
• Chr12: 32863949 (on Assembly GRCh37)

Preferred name:

NM_012062.5(DNM1L):c.456G>T (p.Lys152Asn)

HGVS:

• NC_000012.12:g.32711015G>T
• NG_012219.1:g.36813G>T
• NM_001278463.2:c.456G>T
• NM_001278464.2:c.495G>T
• NM_001278465.2:c.495G>T
• NM_001278466.2:c.131+3602G>T
• NM_001330380.2:c.495G>T
• NM_005690.5:c.456G>T
• NM_012062.5:c.456G>TMANE SELECT
• NM_012063.4:c.456G>T
• NP_001265392.1:p.Lys152Asn
• NP_001265393.1:p.Lys165Asn
• NP_001265394.1:p.Lys165Asn
• NP_001317309.1:p.Lys165Asn
• NP_005681.2:p.Lys152Asn
• NP_036192.2:p.Lys152Asn
• NP_036193.2:p.Lys152Asn
• NC_000012.11:g.32863949G>T

This HGVS expression did not pass validation

Protein change:

K152N

Molecular consequence:

• NM_001278466.2:c.131+3602G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001278463.2:c.456G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278464.2:c.495G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278465.2:c.495G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330380.2:c.495G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005690.5:c.456G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012062.5:c.456G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012063.4:c.456G>T - missense variant - [Sequence Ontology: SO:0001583]